May 2025

Can Epilepsy be genetic? Yes. We get our genes from our Parents. They determine a lot of our features: our height, our skin colour, our eye colour, hair colour and so on. Genes also contain the information required to make the brain, the lungs, the liver and other organs of our body. Therefore, if we have abnormal genes while growing up, we may develop abnormalities of the brain. We are now discovering that in many patients, the cause of Epilepsy is abnormal genes. Just for the sake of completion, allow me to mention that there are two other causes of Epilepsy: Injury to the brain after birth Auto-immunity (when our own immune system reacts against our brain) You can read more about these causes in this article (“What is the cause of Epilepsy?” – Click here). How do abnormal genes produce Epilepsy? Abnormal Genes can produce Epilepsy by one of 3 mechanisms. The table below has one example of each mechanism: How Does It Cause Epilepsy? Example Which Epilepsy Syndrome Does It Produce? By producing abnormal brain cells: Abnormal sodium channels in brain cells SCN1A Dravet syndrome By disrupting brain structures, e.g., by producing too many wrinkles on the surface of the brain ADGRG-1 Polymicrogyria By causing chemical (metabolic) problems: Problems in transporting glucose to the brain SLC2A1 GLUT-1 deficiency syndrome Genes causing Epilepsy – By producing abnormal brain cells Our brain cells contain may pores. These pores are called “Channels”. There are separate channels for specific chemicals. Thus, there are special channels for sodium, another set of special channels for potassium, and so on. If there is a problem with one of these channels, the disease is called a “Channelopathy”. The Sodium channels are most commonly affected. Abnormal sodium channels can cause sodium to flood into the brain cell. This causes a small surge of electricity. If this electricity becomes uncontrolled, you can have a seizure. If you want to read about the exact genes, click the plus sign below. This is a list of important genes causing Channelopathy: Genes causing Channelopathy Genes causing Epilepsy – By disorganizing brain structure The brain is a masterpiece of organization. Each cell is usually it’s God-given perfect place. Sometimes, the cells are okay but their organization is disrupted. This may cause problems such as: Too many wrinkles on the brain (polymicrogyria) Too few wrinkles on the brain (lissencephaly) Thickening of parts of the brain surface (Focal Cortical Dysplasia) Scarring of the brain part behind the ears (Mesial Temporal Sclerosis) etc… Out of these problems, number 3 (Focal Cortical Dysplasia) is very important. If you want, you can click on the + sign below. You can see all the known genes which can cause such problems: Genes causing structural problems Genes causing Epilepsy – By causing Chemical problems Our brain, like the rest of our body, is a finely tuned chemical factory. It burns glucose for energy. This “burn” is a “slow burn”. Energy is gradually extracted, step-by-step. The waste products are sent to the liver/kidneys to be de-toxified or thrown out. If this process is faulty, Brain cells do not get enough energy, or are exposed to toxic substances. This can cause seizures/Epilepsy. This faulty process is called an “Inborn Error of Metabolism”. There is a huge number of genes that produce errors of Metabolism. The list is so large that it is not possible to describe each one here! But that does not mean many people are affected by these genes. In fact, only a few patients with epilepsy have Inborn Errors of Metabolism (IEMs). Doctors typically test for these problems only if there are suspicious features such as consanguinity, repeated episodes of low blood sugar etc… Here is a list of the important genes from a research paper. You can click here for the full version of the paper (Sharma et al 2017). Footnote: Footnote: In some cases, the genes from both parents are perfectly normal. But while the baby is growing in the womb, his/her normal genes may become abnormal. These are called “Somatic mutations”. This is a developing concept in Epilepsy, and therefore not discussed in detail here.   Caution: This information is not a substitute for professional care. Do not change your medications/treatment without your doctor’s permission.

What is an EEG? “EEG” is the short-form of  “Electro-Encephalo-Graphy”. The literal translation is: -Electro = Electrical– Encephalo = head– Graphy = Representation Therefore, “Electro-Encephalo-Graphy” or EEG means “Graphs of the electrical activity inside your head”. An EEG records electrical signals from your brain. If my EEG is normal, does it mean that I do not have Epilepsy? No. A normal EEG cannot guarantee that you do not have Epilepsy. The diagnosis of Epilepsy is based on your clinical condition, rather than any one particular test. This is because there is no perfect test for Epilepsy. A 1 hour EEG is normal in 50% of patients with generalized Epilepsy. Even more disappointingly, the EEG is normal in up to 70% of patients with focal Epilepsy. A longer EEG (for example 4 hours) may show epileptiform abnormalities missed on a shorter EEG. Also, if you are sleep deprived, the chances of your brain having small sparks that can be seen on EEG increases. Therefore, many doctors will ask you to sleep for only 4 hours the night before the EEG. This is called a “Sleep-Deprived EEG”. Many doctors will ask you to sleep only for 4 hours before the EEG test. If my EEG is abnormal, does it mean that I have Epilepsy? Usually, with two caveats. First, rarely, a person who does not have Epilepsy may still have Epileptiform discharges on their EEG. We doctors don’t know what that means. Perhaps these people are at a slightly higher risk of seizures. However, this increase in risk, if at all present, is minimal. Treatment with anti-epileptics is not required unless the person is actually having seizures. Avoiding sleep deprivation, stress and excessive consumption of alcohol would be very reasonable. Abnormal tunnels in the walls of cells can cause Epilepsy. Second, occasionally, normal waves on the EEG may be mistaken for epileptiform discharges. There are many normal waveforms (such as “Wickets”) which look sharp and may be mistaken for abnormal electrical sparks. A second review of the EEG may be helpful in such a scenario. Indeed many epilepsy experts will ask other experts about their opinion when they encounter a particularly odd-looking shape on the EEG. Here is an excellent paper that describes Epilepsy genes causing channelopathy [Bartolini et al 2020]. A EEG may help to figure out whether you are likely to have more seizures – i.e. whether you have epilepsy. What are “Epileptiform Abnormalities”? As explained here, the different parts of our brain communicate with each other using electricity. Usually, this electricity is very strictly regulated. Occasionally, however, a small part of the brain may have an electrical storm. This electrical storm produces abnormal bursts in electricity which can be detected by the EEG. These abnormal bursts can produce many different kinds of shapes on the EEG, including spikes, short buzzes, and so on. These abnormal shapes are called “Epileptiform Abnormalities”. What “Epileptiform Abnormalities” does an EEG show? The type of Epileptic Abnormalities seen on an EEG depend on the type of seizures that you have./’ I have described them below for you to understand your EEG report properly. It may be worthwhile to look up the abnormality noted in your EEG report and find it in the tables below. Depending on which part of the brain (see figure below) is producing these sparks, they are called Frontal, Central, Temporal, Parietal or Occipital. Sometimes, to indicate the exact location, a combination of these words is used. The exact location may identify your Epilepsy Syndrome. For example “Centro-Temporal” spikes are seen in an epilepsy syndrome called Rolandic Epilepsy. The brain is divided into 4 lobes. If you have seizures that start in one part of your brain (Focal Seizures), then you usually get one of two epileptiform abnormalities: Spikes/Sharps: These are like a little electrical spark. The electrical spark produces a pointy wave on the EEG. If it is very pointy it is called a spike (<70 msec), whereas if it somewhat spread out it is called a sharp. Sometimes, a spike/sharp may be followed by a slow, gentle wave on the EEG, almost as if the brain was trying to quieten down the electrical storm. This particular sequence of events is called a “Local Spike-and-wave” An electrical spike is a huge, rapid burst of energy that quickly stops within 1 second. Fast activity: These are “buzzes” of abnormal electrical activity. They produce a hair-brush pattern on the EEG. Your EEG report will indicate the location as well, for example: “short episodes of temporal fast activity were seen”. Fast-activity or electical buzzes on the EEG last around 2-3 seconds If you have buzzes on the EEG, it may indicate that you have Focal Cortical Dysplasia (FCD). FCD is described in more detail here. If you have seizures that start all over the head at once (Primary Generalized Seizures), then you may get other kinds of epileptiform abnormalities on your EEG: Generalized spike-and-wave: The word “Generalized” means “all-over”.These are similar to the spike-and-wave described above, except that these sparks happen all over the head.- They are sometimes seen more prominently in the front of the head, and sometimes it may be difficult to differentiate between a truly generalized spike-and-wave and a frontal spike-and-wave.- They may have multiple spikes in which case they are called “Polyspike-and-wave”. Polyspike-and-wave is seen in Juvenile Myoclonic Epilepsy (JME).- Your epilepsy syndrome determines the speed (technically, frequency) of these spike-and-wave discharges. For example: 3 Hz Childhood Absence Epilepsy Less than 3Hz Lennox – Gastaut Syndrome (LGS) More than 3 Hz Juvenile Absence Epilepsy (JAE) or Juvenile Myoclonic Epilepsy (JME) Generalized spike-and-waves are seen in Absence epilepsy. They are also seen in the other syndromes described above. Generalized Paroxysmal Fast Activity (GPFA): These are similar to the fast activity described above, except it happens all over the head. Children with Lennox-Gastaut Syndrome (LGS)may have GPFA on their EEG.However, all patients with GPFA do not have Lennox-Gastaut Syndrome – This is a common misconception, even amongst doctors. Even if your child has GPFA on his/her EEG, he/she may not have

What is an MRI? MRI stands for Magnetic Resonance Imaging. An MRI machine takes very clear pictures of your brain using a magnetic field. https://www.shutterstock.com/image-photo/mri-machine-hospital-room-482984881 MRI machines are graded based on the strength of the magnetic field they can produce. If an MRI can create a powerful magnetic field, it produces very clear pictures of the Brain. Magnetic fields are measured in units called “Tesla.” Here are some typical MRI (Magnetic) Strengths: 1.5 Tesla – Most common. 3 Tesla – Almost all Epilepsy centres have a 3Tesla MRI machine. 7 Tesla – Strongest MRI approved for human use so far. Only manufactured by Siemens. Only a few hospitals in the world have this machine. As you can imagine, a low strength MRI can fail to display tiny Brain abnormalities. Therefore, when a patient comes to an Epilepsy center, frequently, the first thing done is to get a brain MRI at high strength (at least 3Tesla). If the MRI does not display an abnormality, does it mean that I do not have Epilepsy? No. In many cases, the brain abnormality can be so small that it cannot be detected even with an MRI. A 3Tesla MRI (the most common MRI at Epilepsy centres), fails to display brain abnormalities in roughly 50% of patients with Epilepsy. As MRI strength continues to grow (e.g. 9T  & beyond), the number of people with Epilepsy in whom we cannot see the problem will decrease. If the MRI displays an abnormality, does it mean that I definitely have Epilepsy? No. No one is perfect. Any MRI done on a person is bound to show some variations from normal. https://www.shutterstock.com/image-photo/brain-disease-diagnosis-medical-doctor-diagnosing-1525567082 Beyond a certain age (say 40 years), the effects of ageing become visible on the MRI. There may be changes caused by high blood pressure, by diabetes, by trauma, and so on. Very few of these things seen on an MRI are capable of producing seizures. The critical question is: Does the thing seen on the MRI look like it can produce seizures? Answer this question requires expertise. A trained radiologist takes a very close look at the MRI and tries to identify it’s exact nature (more below). If he/she thinks that the abnormal thing is capable of producing Epilepsy, he labels it “Epileptogenic”. If an abnormal thing seen on the MRI is thought to be capable of producing Epilepsy, it is called an “Epileptogenic Lesion”. What are the different kinds of “Epileptogenic Lesions” seen on an MRI? Let’s talk about the most common ones. Let’s list them first, before looking at what the MRIs look like: Epileptogenic Abnormality Meaning Lissencephaly Fewer wrinkles on the brain Polymicrogyria Too many wrinkles on the brain Focal Cortical Dysplasia Part (focal) of the brain surface (cortex) is abnormally formed (dysplasia) Nodular Heterotopia Abnormal bunch of cells stuck in strange locations inside the brain Tuberous Sclerosis The brain has many large bumps (tubers) on the surface and nodules deep inside (subependymal nodules) Mesial Temporal Sclerosis The inner surface of the temporal lobes (behind our ears) is scarred Sturge-Weber There are too many blood vessels over some parts of the brain, and the brain surface below these blood vessels is abnormal Cavernoma A bunch of thin-walled blood vessels that slowly leak blood Gliosis Scarring of the brain due to any reason, e.g. trauma due to a vehicular accident, stroke, etc. https://upload.wikimedia.org/wikipedia/commons/9/9d/Lissencephaly.jpg https://upload.wikimedia.org/wikipedia/commons/1/1d/TSC.png https://www.shutterstock.com/image-photo/neurosurgeon-cutting-brain-specimen-abnormal-vessel-1163324815 https://upload.wikimedia.org/wikipedia/commons/1/1d/TSC.png Even if an Epileptogenic lesion is not found, can the MRI help in diagnosing my disease? Yes! In some people, Epilepsy is caused by a chemical (Metabolic) problem. In these people as well, characteristic MRI changes (e.g. deposition of heavy metals) may help in diagnosing your condition. For example, see the list below. This is just for reference, and not to be memorized: Metabolic Disease Producing Epilepsy Cause MRI Findings Non-Ketotic Hyperglycinemia Too much of a substance called Glycine Swelling and formation of fluid balloons in structures called the pyramidal tract, MCP, and dentate nuclei Maple Syrup Disease Problems in handling some kinds of proteins Swelling of the entire brain The white matter can become extremely bright Zellweger Syndrome Abnormal bubbles inside cells Polymicrogyria & heterotopia (just behind the ears) White matter has not developed the normal coating of fat Menke’s Disease Accumulation of copper Skull bones may be in pieces (wormian bones) Chronic subdural bleeds Brain shrinks White matter swells Copper accumulates in basal ganglia Blood vessels become tortuous Note: MRI findings in other metabolic causes of seizures are given below, just for completion. This part is not necessary for you to read: Metabolic Disease Producing Epilepsy Cause MRI Findings Methyl-Malonic Aciduria Problems in handling some kinds of proteins & fats Swelling of small structures deep inside the brain called Globus Pallidi Glutaric Aciduria Type 1 Problems in handling some kinds of proteins Grooves on the side of the brain (Sylvian fissures) become very wide Hydroxy Glutaric Aciduria Unknown Swelling of white matter just below the brain surface (U-fibers) Deep structures (especially Dentate Nucleus) show injury Molybdenum Cofactor Deficiency Accumulation of a toxic substance called sulfite The surface of the brain becomes very bright as if it is starved of oxygen Congenital Creatine Deficiency Low levels of essential enzyme activity No creatine inside cells MELAS Abnormal mitochondria inside cells Stroke-like lesions that move from one place to another Leigh’s Disease Unknown Deep structures start to die (Basal Ganglia & Dentate nucleus) with accumulation of a chemical called lactate Neuronal Ceroid Lipofuscinosis Accumulation of fatty pigments (lipofuscin) The back of the brain shrinks White matter can become “dark” Caution: This information is not a substitute for professional care. Do not change your medications/treatment without your doctor’s permission.

Parkinson’s disease is the most common Bradykinesia cause. But, there are many non-Parkinson’s causes of Bradykinesia. It is important to know non-Parkinson’s diseases which can also cause Bradykinesia. The treatment of each disease is different. Let us discuss this topic in a systematic fashion. Book An Appointment Noticing stiffness or slowness in routine activities? Reach out for timely consultation before symptoms worsen. Is it really Bradykinesia? The literal definition of Bradykinesia would include all kinds of slow movements. But, doctors think of bradykinesia differently. Most doctors use that word for involuntary slowness caused by problems in the brain. So, slow movements due to the following reasons is not Bradykinesia. Slow movements that are not Bradykinesia 1. Voluntarily slow movements due to pain 2. Voluntarily slow-walking due to fear of falling over 3. Stiff joints causing slowness 4. Stiff Muscles causing slowness 5. Overactive nerves causing stiff muscles Let us look at these problems in detail. The examples may appear complicated. Don’t worry. Understanding the concepts is more important. 1. Voluntarily slow movements due to pain: A person in pain moves that body part slowly and carefully. If that body part is in the legs (for example – knees) the person may walk slowly to avoid pain. This is not bradykinesia. Examples: Painful hip arthritis, knee arthritis, ligament tears, infections of the legs… Knee pain or stiffness can make your walking slow. This is NOT bradykinesia. 2. Voluntarily slow walking due to fear of falling over: Some people have a problem with balance. The balance system includes sensory nerves in the legs, spinal cord and the little brain (cerebellum). For obvious reasons, these people walk carefully. The walk with their feet wide apart. They make sure each step they are taking is safe. They are especially slow and deliberate when walking on uneven ground. This is not bradykinesia. It is a conscious, purposeful, voluntary decision. This type of slow gait is a “Cautious gait”. Examples: Diabetic neuropathy, Vitamin B12 deficiency, HIV, compression of the spinal cord… People who are unsteady, walk slowly and carefully. This is NOT bradykinesia. 3. Stiff joints causing slowness: Joints may become stiff because of immobility. This may happen after casting for fractures. Joints can also become stiff because of inflammation. Diseases like Rheumatoid arthritis & Ankylosing Spondylitis can lead to joint swelling and stiffness. People with stiff joints are unable to make big movements. Their steps may be small, and they may walk slowly. This is not bradykinesia. Examples: Frozen shoulder, knee osteoarthritis, Rheumatoid arthritis, Ankylosing Spondylitis… 4. Stiff muscles causing slowness: This is relatively uncommon. Some conditions can cause painful swelling and fibrosis of muscles. Others conditions can cause them to be in a state of perpetual contraction. Surely, if the muscles are inflamed, painful and stiff, movements will become slow. Examples: Neuromyotonia, Fibrosis secondary to Emery-Dreifuss, dermatomyositis… Stiff muscles or joints can make movements slow. Note that there is some subtlety here. Stiff muscles can also be a symptom of Parkinson’s. If the slowness is due to stiff muscles, it is not bradykinesia. On the other hand, if both the slowness and stiffness are due to a brain problem, then it is bradykinesia. Differentiating one from the other requires care, and medical expertise. 5. Overactive nerves causing stiff muscles: This is the rarest reason. Most doctors will see only 1-2 cases like this in their life-time. Examples: Stiff-man syndrome due to GAD-65 antibodies Book An Appointment Early diagnosis of bradykinesia can change the course of treatment. Don’t delay — consult a neurologist today. Are other symptoms of Parkinson’s present? As noted before, Parkinson’s disease is the most common of all the bradykinesia causes. Parkinson’s disease has many symptoms other than Bradykinesia. Not all these symptoms need to be present. But at least some of these symptoms need to be present to make a diagnosis of Parkinsonism. 4 Cardinal signs of Parkinson’s disease 1. Slowness (Bradykinesia, Hypokinesia or Akinesia)2. Uncontrolled shaking (tremor)3. Stiffness (rigidity)4. Unsteadiness Other than these 4 symptoms, patients with Parkinson’s disease have other symptoms too. The 16 most important symptoms of Parkinson’s are described in another article. [16 early symptoms of Parkinson’s disease]. There are many problems with movement in Parkinson’s disease. What if you don’t have any of these symptoms? Then, we need to carefully look for non-Parkinson’s cause of Bradykinesia. 3 Non-Parkinson’s causes of Bradykinesia These are conditions of the Brain which cause involuntary slowness. These conditions are limited in number. Simple tests such as an MRI of the brain, blood tests and talking can help to rule out these problems. Disease Treatment 1. Damage to the front of the brain Examples: – Tumors – Strokes – Hydrocephalus (too much water) etc… The person forgets how to do something. For example, the patient may forget how to take the next step. In the purest sense, even this is not bradykinesia. It is called “frontal Apraxia”. Treatment is varied. e.g. Hydrocephalus is treated by a shunt. 2. Hypothyroidism Thyroid hormone tablets 3. Severe depression Counselling, antidepressants Hydrocephalus is a condition in which there is too much water inside the brain. Treatment is a shunt surgery. A thin pipe is inserted, just below the skin. This pipe drains excess water from the head into the stomach. Book An Appointment Slow or difficult movements affecting daily life? Take the first step towards answers and better care now. The importance of being careful Sometime, patients may be mis-diagnosed to have Parkinson’s disease. This is uncommon, but not difficult. Look at the person below. He has a kind of hydrocephalus called Normal Pressure Hydrocephalus (NPH). NPH is one of the non-Parkinson’s causes of Bradykinesia. Look at how he is truly slow with his movements, especially walking. Sometimes, he appears “stuck” to the ground. https://www.youtube.com/watch?v=hziyFfJTrQo Imagine how easy it is to diagnose Parkinson’s disease here. But, this person does not have Parkinson’s disease. This patient with NPH will improve after a small surgery called shunting. But, if this patient is mis-diagnosed and gets Parkinson’s medications instead, there will be no improvement. Bottom-line First, the doctor verifies if you really have bradykinesia. Parkinson’s disease is the most common of

What causes Epilepsy? We have previously defined a seizure as follows: A Seizure is a brief, uncontrolled surge of electricity resembling an electrical storm. A seizure is an electrical storm inside the brain. (Read more here: What is a seizure?) and Epilepsy as follows: Epilepsy is a tendency of the brain to have Unprovoked seizures. If your brain keeps on having seizures, then doctors conclude it has a TENDENCY to have seizures. This tendency is called Epilepsy. (Read more here: What is Epilepsy?) But, what causes the Brain to develop this increased tendency? Is Epilepsy something that you are born with? Is it something that happens due to injury to your Brain? Let us talk about these causes. Is there a single cause for Epilepsy? No. The cause for Epilepsy is different in different people. Epilepsy may be caused by Abnormal Development of our bodies and Brain before we are born, or by injuries to our Brain after birth. For the sake of understanding, allow me to divide the causes into 5 groups: Abnormal Development – producing abnormal brain cells Abnormal Development – causing chaotic brain structure Abnormal Development – causing chemical (metabolic) problems Brain injury due to incidents after birth Auto-Immunity The first 3 categories are due to abnormal genes. As we start to know more and more about seizures, we are beginning to identify more and more gene abnormalities that can cause Epilepsy. E.g. We now know that most cases of “Dravet Syndrome” are caused by SCN1A gene abnormalities which in turn produce a problem with sodium channels on cells (Mechanism 1). Mechanism 1: Abnormal Development – producing abnormal brain cells Our Brain is made up of millions of minute cells. Each one of our cells has little tunnels called “Channels”. These tunnels act as gatekeepers. They can let substances such as potassium and Sodium into the cell, and can also throw these substances out of the cell. Abnormal tunnels in the walls of cells can cause Epilepsy. A problem with the “Channels” on the cell is called a “Channelo-Pathy”. The word “pathy” means disorder. If there is a problem with one of these channels (Channelo-pathy), the cell can become excitable. Most commonly, the problem is with the channel for Sodium. For example, if there is a problem with the channel that regulates Sodium, too much Sodium can enter the cell, and the cell can start throwing small surges of electricity. A lot of cells throwing minute surges may cause a HUGE SURGE of electricity in the Brain – a Seizure. We are discovering that many of our patients have Epilepsy due to a Channelopathy. We are discovering new channelopathies every year. Have a look at the short list below – this is just to illustrate the concept and not for memorization. If you’re interested, you can see a more comprehensive list by clicking here (Spillane et al.). Substance Affected Gene Epilepsy Syndrome Sodium SCN1A Dravet Syndrome Sodium SCN2A Benign Familial Infantile Seizures Potassium KCNQ2 & KCNQ3 Benign Familial Neonatal Convulsions Potassium KCNT1 Malignant Migratory Partial Seizures of Infancy Calcium CACNA1A Childhood Absence Epilepsy Chloride/Calcium Channels GABRA1, EFHC1, CACNB3, CLCN2 & others Juvenile Myoclonic Epilepsy Acetylcholine CHRNA2, CHRNA4, CHRNB2 Autosomal Dominant Frontal Lobe Epilepsy Here is an excellent paper that describes Epilepsy genes causing channelopathy [Bartolini et al 2020]. Mechanism 2: Abnormal Development – causing chaotic brain structure The outer surface of the Brain is called the “Cortex”. The Cortex consists of 3-6 sheets of cells placed on top of each other, like a set of bedsheets on top of each other. The outer surface is also folded, like bedsheets with a lot of creases. These folds are called “Gyri”. Below the Cortex and well separated from it is a bunch of wires, called the “White Matter.” https://commons.wikimedia.org/wiki/File:Cerebral_cortex,_side_view.svg This exquisite arrangement is critical for proper brain functioning. If this arrangement does not correctly form before birth, abnormal electrical connections can be created, like two electrical wires crisscrossing each other. The resulting short circuit can cause electrical sparks/surges in that part. These surges can then spread throughout the Brain producing a HUGE SURGE – a seizure. Let us briefly discuss some of these problems with the structure of the Brain: 1.Lissencehaply / Pachygyria: “Lissen” means Smooth & “Cephaly” refers to the Brain = Smooth Brain Paychy means “few” & “Gyri” are the folds of the Cortex = Few Folds https://upload.wikimedia.org/wikipedia/commons/9/9d/Lissencephaly.jpg In both these conditions, the number of folds of the Cortex (the wrinkles) are reduced. Therefore the surface of the Brain looks smoother than usual. 2. PolyMicroGyria: “Poly” means many, “Micro” means small, & “Gyri” are the folds of Cortex = Many small folds In this condition, there are too many folds of the Cortex! Therefore the surface of the Brain looks exceptionally wrinkled. 3. Focal Cortical Dysplasia & Nodular Heterotopia: While the Brain is developing, the cells of the Cortex may not form properly and get arranged haphazardly. Usually, this involves only a part of the Brain (Focal) rather than the entire Brain. The Latin word for abnormal formation is “Dysplasia”.  Therefore this disease is called “Focal Cortical Dysplasia” or FCD for short. Frequently these abnormal cells get stuck in the mass of cells called the “White matter” instead of reaching the Cortex. They formed nodules below the Cortex. Heterotopia in Latin means “Abnormal Movement”. Therefore, this disease is called “Nodular Heterotopia.” As can be imagined,  “Focal Cortical Dysplasia” & “Nodular Heterotopia” commonly occur together, but each one can also happen separately. 4. Tuberous Sclerosis & Cortical Tubers: Tuberous Sclerosis is a disease in which patients have white patches on the skin and nail and eye abnormalities, in addition to seizures. In this disease, the Brain has multiple abnormalities. One of them is strange blobs of cells in the Cortex with scarring and calcification which produces large bumps on the surface of the Brain. these are called “Cortical Tubers.” 5. Mesial Temporal Sclerosis: The temporal lobes are the part of the Brain below the ears. Sometimes, the inner side of this part develops scarring. In Latin, the inner side is called

Shuffling gait means a walking pattern, in which a person drags his/her feet while walking. Shuffling gait is defined as a walking pattern in which thefoot is still moving when it hits the ground. Some people call it “Festinating gait“. But, shuffling gait and Festinating gait are different. Festinating gait is a walking pattern with rapid, small steps as if the person is going to fall over. You can see a video of shuffling gait, and a video of festinating gait below. The most common cause of both is Parkinson’s disease. But there are also other causes of shuffling gait such as hydrocephalus. The treatment of shuffling gait depends on its cause. Hello! I am Dr Siddharth Kharkar, a Neurologist in Thane, India and a Neurologist in Mumbai, India. I provide Parkinson’s treatment in India and am an Epilepsy specialist in India. I provide Epilepsy surgery in India at Mumbai & Parkinson’s surgery in India. Let us learn more about these patterns of gait. What is the meaning of Shuffling gait? Let us think about a fictional person, Sue. Sue has a normal gait. Sue starts walking. Sue first lifts one foot up. Then he moves that foot forward. After the foot is adequately in front, Sue stops moving it forward. She then places the foot down on the ground. Sue can do this very rapidly, and walk very fast. Usually, we walk like Sue. We do not shuffle. == Shuffling gait means a peculiar way of walking, in which the foot is still moving when it hits the ground. Let us look at another person, Mary. Mary does not lift the foot high off the ground. She moves it forward slowly. Even before he/she moves it forward adequately, it is time to put the foot down! And so she does so. This causes Mary to shuffle while walking. This is the meaning of a “shuffling gait”. See this sample video of bradykinesia posted by a Russian doctor on youtube: Festinating gait verus Shuffling gait Festinating gait and shuffling gait are slightly different terms. Festinating gait happens when the person bends forwards while walking. Let us look at a third person – Michael. Michael bends forwards at all times – sitting, standing & even while walking. Now, Michael starts to walk. But he immediately feels like he will fall forwards on his face. He takes a quick short step forward to avoid falling. Saved! But again, immediately, he again feels like he will fall forwards. So he takes another quick, short step. And so on… This is called a Festinating gait. Note that these movements are rapid. It is different than the slow shuffling gait seen in Parkinson’s disease. You can see an example of Festinating gait in the video below (youtube – Ms. Kosutzka): Thus, Festinating gait happens when the patient bends forward while walking. He/she then takes rapid, small steps while walking to avoid falling forwards. Further reading: Gait festination in parkinsonism: introduction of two phenotypes – Jorik Nonnekes, Journal of Neurology 2019; 266(2): 426–430.It is not essential to read this paper. This paper talks about the controversies regarding these two terms. It is fascinating, but is difficult to read for a non-medical audience. Shuffling gait causes The most common cause of shuffling gait is Parkinson’s disease. In Parkinson’s disease, the patient becomes slow. So, the gait is a slow shuffling gait. Treatment can dramatically improve this slow shuffling. Some other conditions can mimic shuffling gait. If someone has very painful knee arthritis they cannot lift their feet high off the ground. Their gait may be mistaken for a shuffling gait. 5 causes of Shuffling gait that are not Parkinson’s disease Alzheimer’s disease – the person might “forget how to walk”. This is called “Gait Apraxia”. Hydrocephalus – Excessive water inside the head Vascular disease – obstructions to blood flow to the brain, causing small strokes. Severe unsteadiness – due to problems with the balance system of the body. The person feels like he is going to fall all the time. Hence, he takes small, shuffling steps instead of boldly stepping forward (“Cautious gait”). Parkinson’s Plus syndromes [Click here for reading more] Sometimes, the gait seen in these diseases is extremely difficultif not impossible to differentiate from the shuffling gait of Parkinson’s disease. For example, here is a video posted by the hydrocephalus association of America. This patient has Normal Pressure Hydrocephalus (NPH), and NOT Parkinson’s disease. As you can see, the gait looks very similar to Parkinson’s disease. Thus, NPH can mimic Parkinson’s disease. So, it is critical to look for other features of the “Parkinsonian gait” before making a diagnosis. For example, watch the video above again. Notice how there is no slowness of the upper part of the body. Other features of the gait in Parkinson’s disease are described below. What is Parkinson’s gait? The term GAIT in medicine includes all body movements while walking. In Parkinson’s changes in the movements of other body parts are also seen. Gait changes seen in Parkinson’s disease Head is bent forward Body is bent forward The person may take some time to start walking (“Freezing”). Once he or she starts walking: The normal swinging of arms while walking is reduced. The chest and stomach appear “stiff” while walking Walking becomes slow Shuffling gait and/or festinating gait may be seen There might be unsteadiness while walking The person might “Freeze” when he/she has to turn. This also happens when walking through doorways or around obstacles. You can notice these changes in the videos below. In the early stages of Parkinson’s, these changes may be very subtle. That is why it is so easy to miss the diagnosis of Parkinson’s disease. Here is an excellent video demonstrating these symptoms. This video has been made by Lancet, a leading medical journal. Treatment of shuffling gait of Parkinson’s The treatment of shuffling gait depends on its cause. The most common cause is Parkinson’s disease. In Parkinson’s disease, the brain has a deficiency of the chemical called Dopamine. Levodopa is an oral medication. Once it goes to the brain, it gets converted into dopamine! This can

What is “Syncope”? “Syncope” means loss of consciousness due to decreased blood supply to the brain. “Syncope” is the most important and common Seizure Mimic. Some events look almost precisely like seizures but are not seizures. These events are called “Seizure Mimics”, and may be mistaken for seizures. There is NO electrical surge in the brain with any of these “Seizure Mimics”. If an episode of  Syncope is mistaken for a Seizure, two things happen: Unnecessary treatment with anti-epileptics, and lack of treatment for the “true” condition (e.g. cardiac arrhythmia). Which problems cause “Syncope”? Lets quickly summarize how blood goes to the brain: The heart receives oxygenated blood from the lungs. It pumps this blood to the brain through large blood vessels in the neck. The heart takes oxygenated blood from the lungs and pumps it to the brain. 4 Groups of problems can cause Syncope: 4 Problems Causing Syncope Heart problems Overactivity of the vagal nerve A sudden drop in BP on standing up (Orthostatic Hypotension) Problems with blood vessels going to the brain Which heart problems can cause Syncope? If the heart has become weak (for example due to multiple heart attacks) and not able to pump enough blood, the patient may occasionally lose consciousness. This cause is not very common. A weak heart can cause episodes of unconciousness (syncope) More common is an obstruction to blood flow in the heart.Valves in the heart usually keep blood moving in only one direction. They can open and close as needed. Sometimes the heart valves (especially a valve called the Aortic Valve) may become damaged and incapable of opening completely – this decreases blood flow to the brain. Sometimes, the heart wall around the Aortic Valve may become thickened producing the same effect – this condition is called “Hypertrophic Sub-Aortic Stenosis”.An echocardiogram quickly & easily detects these structural problems. Valve problems in the heart may obstruct the flow of blood and cause episodes of unconciousness (syncope) A straightforward problem to miss is Cardiac Arrhythmia. Usually, the heart beats regularly, almost like a clock. But if the wiring system of the heart develops problems, it may have episodes where it suddenly stops beating or starts beating very rapidly without pumping any blood. This condition is called a cardiac Arrhythmia (A = lack of – rhythm).Since these rhythm problems occur only once in a while, a single ECG may miss them. Therefore, an EEG machine that is stuck to your chest and records your heart rhythm for many days (A Holter Monitor) may be required. Newer devices called External Loop Recorders (ELDs) can record your heart rhythms for many months at one time!You may require a pacemaker if you have a severe cardiac arrhythmia. An irregularly beating heart can cause unconciousness (syncope) What do you mean by overactivity of the Vagal Nerve? The vagal nerve is a long nerve from the brain to the heart. When it is active, it can decrease the heart rate. The vagus nerve is an extremely long nerve that goes to many organs, including the heart. If something overstimulates the vagal nerve, it can become overactive. It then causes the heart to become very, very slow. This causes decreased blood flow to the brain and leads to loss of consciousness. It is easy to identify the precipitant that caused the vagus nerve overactivity. The following is a list of such precipitants. Only the first one is common: Intense Emotion or Pain: Being startled, the sight of blood, intense fear etc Choking on something. Rarely swallowing very cold or hot food can cause Syncope. Massaging the neck or wearing a very tight collar (which leads to stimulation of sensors called carotid bodies which are connected to the vagus nerve) Passing urine (Micturition Syncope) Rarely: Laughing hard and Orgasms What can cause a sudden drop in Blood Pressure on standing (Orthostatic Hypotension)? Meaning of Orthostatic Hypotension Ortho = Straight,  Statikos = to stand Hypo = Low, Tension = Pressure Meaning: Low Pressure on Standing Straight A drop in blood pressure may cause unconciousness (syncope) When we stand up suddenly, blood tends to pool in our legs, and our brain tends to get less blood. To prevent this, the blood vessels in our legs contract and our heart beats faster. If these things don’t happen, our heart pumps less blood, and our blood pressure drops. This may cause us to lose consciousness. When some people stand up suddenly, their brain does not get enough blood. This is alled Postural or orthostatic hypotension. A sudden and large drop in our Blood Pressure on getting up suddenly is called “Orthostatic Hypotension”. During your office visit, the doctor may check your BP when you are lying down and then ask you to get up suddenly. While you are standing, he/she will check your BP two more times. If your upper (systolic) BP drops by more than 20 units, or your lower (diastolic) BP drops by more than 10 units, its likely that your events are due to Orthostatic Hypotension. In some cases, an advanced test called a “Tilt Table Test” confirm the diagnosis. A tilt table test is used to diagnose postural hypotension What can cause this drop in BP? There are many causes! It is difficult to remember all of these causes, but I list them here so that you can understand the monumental task facing your doctor and are patient while he goes through a series of tests to find the exact cause of your orthostatic hypotension: Causes of Orthostatic Hypotension Examples Brain Problems – Parkinson’s disease and its sisters like MSA – As part of normal ageing Nerve problems (Neuropathy) Damage to nerves controlling the heart & blood vessels due to: – Alcoholism – Diabetes – B12 deficiency – HIV – Many others… Heart Problems – Cardiac failure – Valve problems Dehydration Not enough fluid in the body due to: – Drinking very little water – Diarrhoea or vomiting Hormonal Problems – Low functioning of the Adrenals (Addison’s) – Low thyroid levels

Is it possible to mistake another kind of event for a seizure? Yes! It is important to remember that many other conditions may look just like seizures, but are not seizures. These are the “Seizure Mimics”. Seizure mimics look like seizures, but are NOT seizures. There is NO electrical surge in the brain with any of these “Seizure Mimics”. Hence, they should not be treated with anti-surge / anti-seizure / anti-epileptic medications. But identifying them is very important since some of them (e.g. Sandifer syndrome) may need a different kind of treatment. Here, we will discuss seizure mimics that are unique to children, that is seizure mimics that occur in children, but not in adults. Some seizure mimics may happen in both adults AND children – these are discussed in another article. If you are interested in seizure mimics, make sure you read that article as well. How do we maintain our balance? The 6 mimics below are probably the most important to know. These 6 mimics may be initially misdiagnosed as seizures, occasionally even by very competent doctors. Seizure mimics can confuse the most experienced doctors! The list below is not comprehensive. I have not included more common episodes like migraine and tics, because these are usually simple to distinguish from seizures. Also, as mentioned above, make sure you read the separate article about Seizure Mimics that may happen in adults AND children to get the full picture. [Seizure mimics in adults and children]. Seizure Mimics in Children Benign neonatal sleep myoclonus Breath-holding spells Sandifer syndrome Masturbation Shuddering attacks Benign paroxysmal torticollis & Benign paroxysmal tonic upgaze Great! Can I skip the visit to the doctor? Of course not! You could miss a seizure disorder. For example: Breath-holding spells & Tonic seizures look similar. Shuddering attacks and Infantile Spasms (a variety of seizure) can look very similar and so on. Do not diagnose your child with one of these seizure mimics without further confirmation from a doctor. Use this information only as a starting point for a detailed conversation with your doctor. At what age do these “Seizure Mimics” appear? I will make it very simple to remember: “Benign Neonatal Sleep Myoclonus” is seen only in children less than 6 months of age. All the others start between 6 months to 5 years of age Let us talk about these, one by one. What is Benign Neonatal Sleep Myoclonus? The word “Benign” means harmless. “Neonatal” means in a baby less than 6 months old. “Myoclonus” means jerks. Therefore, the literal translation of this fancy phrase is “harmless jerks of a small baby during sleep”. When babies are less than 6 months old are falling asleep, they may have some jerking of their arms or legs. Surprisingly, this is more common if they sleep immediately after being fed. Isolated jerks while sleeping are often benign. But an EEG is needed to confirm this. Treatment is usually not needed. These episodes end when the baby becomes older. What are “breath-holding spells”? The classical episode of breath-holding happens after an emotional upset – such as being scolded or getting angry. The child cries for a long time and then suddenly holds his/her breath. Their face may turn blue and sweaty, and they lose consciousness. They remain unconscious for about 30 seconds, sometimes up to 1 minute. During this time, the entire body goes limp. When angry, children can hold their breath long enough to pass out! Occasionally the body may become rigid instead, and the arms or legs may jerk. Depending on the severity of this episode, the child may be confused for a few minutes after regaining consciousness. Even though this is not a seizure, it is wise to take the same precautions because the child does lose consciousness. [Click here] Breath-holding spells are primarily a psychological problem. Counselling usually helps the child and medications are generally not required. The episodes typically go away before 5 years of age.  Note: Another variant of “breath-holding” is characterized by the skin becoming pale, instead of blue. These are called pallid-breath-holding spells, or “pallid infantile syncope”. The mechanism of these events is slightly different (a decrease in heart rate caused by intense emotional stimuli). Still, everything else about them – including spontaneously going away by age 5 -is practically the same.  What is “Sandifer Syndrome”? Dr. Paul Sandifer was a famous British neurologist. He noticed that babies who had food reflux sometimes started having strange movements of the neck. One of his Austrian students, Dr. Kinsborne formally documented this observation and named it in his teacher’s honour. Once a baby is fed, and its tummy is full, it tends to be happy. Unfortunately, some babies have a condition in which food does not stay in the stomach. It flows back towards the mouth. This reflux of food and stomach acid is extremely uncomfortable, and the baby may express distress by crying. If he/she is old enough, he/she may point to his stomach or chest as the source of discomfort. Sandifer syndrome is caused by reflux of acid from the stomach to the mouth. For unclear reasons, this problem causes some children to have weird movements of the neck, upper arms and shoulders and sometimes the back as well. The child may arch his/her head backwards, or to turn it to one side. In very severe cases, the child may lie on the floor with and stiffen and arch his/her back intermittently. Babies may express pain by crying and sometimes by strange writhing movements of the body. The episode lasts for a variable time, occasionally up to an hour. The episodes usually stop after antacid and anti-reflux medications. Rarely, there may have a structural problem near the top of the stomach (a hiatal hernia) which may need to be surgically corrected. Can masturbation in children be mistaken for seizures? Even though this topic is seemingly uncomfortable, we need to discuss it here because masturbation is common in children. They do it unknowingly, and  because they are unable to express themselves at their young age, these episodes

At present, we do not have a Miracle Cure for PSP. But that does not mean that a cure will never be available. Diseases such as Hepatitis-C were incurable. They now have cures. We should keep ourselves healthy for the future. Some medications may decrease symptoms. Also, non-medication treatment is essential. Non-medication treatment includes swallowing training and balance training. I am Dr Siddharth Kharkar, a Neurologist in Thane, India and a Neurologist in Mumbai, India. I provide Parkinson’s treatment in India and am an Epilepsy specialist in India. I provide Epilepsy surgery in India at Mumbai & Parkinson’s surgery in India. Let us read about these things. As noted earlier, PSP is different than regular Parkinson’s disease. PSP patients may have all the symptoms of Parkinson’s disease. They also have problems with eye movements (video below) and falling. Click here to know the complete signs. https://www.youtube.com/watch?v=LU7TC0wufhg&t=6s This article is only for patients with PSP. I am Dr Siddharth Kharkar, a Neurologist in Thane, Maharastra, India. I also work as a Neurologist in Mumbai, India. Come, let’s learn together about this important topic. Will a miracle cure for PSP (Progressive Supranuclear Palsy) ever be available? We don’t have such a cure now. But let us put this in perspective. When I was in medical school, medical students were scared of Hepatitis-C. Hepatitis-C is spread like HIV, through nicks and cuts while treating patients. At the time, there was no miracle treatment. If someone were to get it, they developed severe problems like liver failure and liver cancer. Does this disease have a miracle cure now? Yes. In 2013, the US FDA approved a very effective medication. The name of this medication is Sofosbuvir. With other medicines, Sofosbuvir can cure 94-99% of all patients. Sofosbuvir is a near-miraculous cure for some patients with Hepatitis C. It is difficult to predict when such a cure will be available for PSP. Not me, nor any other doctor can make a 100% guaranteed prediction. But, we need to take care of ourselves in the present. We should partake of the available treatment. We need to be ready to bear the future benefits of current research. Levodopa for PSP treatment: As noted in another article, PSP causes decreased dopamine activity in the brain. Levodopa is an oral tablet. It goes into the brain, where it is converted into Dopamine. Levodopa is very useful in Parkinson’s disease. So, people have tried using it in PSP. The benefit of Levodopa in PSP is not predictable. About 25-40% of people benefit. The improvement may be incomplete. Levodopa may also become less effective after some years. Once it enters the brain, Levodopa is converted into Dopamine. Overall, Levodopa can be very helpful, even if it is not a Miracle cure for PSP. But, that is not the complete story. PSP Subtypes and treatment There is increasing awareness that there may be more than one variety of PSP. In 2017, the International Movement Disorders Society (MDS) described 7 variants: PSP-subtype Characteristic 1. PSP-RS (PSP-Richardson) Typical “PSP”, with severe falling and eye movement problems 2. PSP-P (PSP-Parkinsons) Almost identical to Parkinson’s disease 3. PSP-OM (Ocular movement) With eye movement problems 4. PSP-PI (Postural instability) With severe walking problems and falls 5. PSP-CBD, PSP-F, PSP-SL These varieties are rare. It is not essential to remember all these varieties. Please focus on number 2. Number 2 is PSP-Parkinsonism. Which translates into “PSP that behaves like Parkinson’s disease”. PSP-P behaves like Parkinson’s disease in it’s response to Levodopa. Although still partial, Levodopa may have a marked effect on PSP-P. The effect may also last for a longer time, often extending over many years. Some variants of PSP are like Parkinson’s disease. How many people have this variant? That is a matter of great debate. As I mentioned, this research is new, and people are still debating how to classify patients. What it means for you – your response to Levodopa may be better than doctors earlier thought possible. We need to try it. Amantadine for PSP treatment: Amantadine is another medication used in Parkinson’s disease. No one understands how it works. It was initially made to be an Antiviral, against the Flu virus. But doctors found it is useful for Parkinson’s disease. Amantadine can decrease freezing – the feeling that your feet are stuck to the ground. Amantadine may also be useful in PSP. In particular, it may help you in walking better. Patients with PSP may freeze while walking. They feel like they are stuck to the ground. They cant take another step forward. Amantadine may reduce these “freezing” episodes. Most doctors will try Levodopa in PSP. But many do not try Amantadine. Almost all authorities feel it should at least be tried in all patients. The authoritative Marsden’s Textbook of Movement disorders also recommends an Amantadine trial. Other medications for PSP These other medications do not improve movement dramatically. But they can be beneficial for other problems such as depression and trouble opening your eyes. Medication May help with 1. Amitriptyline DepressionMay improve walking. 2. Donepezil Thinking problemsMay decrease “Freezing” 3. CoQ-10 Still in research stagesNot a good option at present May help with movement. 4. Zolpidem Same as above 5. Botox injections An excellent option for a particular problem (see below) Botox injections are often overlooked. In some PSP patients, the muscles around the eye are forcefully contracted all the time. You may not be able to open your eyes. This is called “Blepharospasm”. As you can imagine, not being able to open eyes is a troublesome problem. Botox relaxes muscles. Botox helps to keep the eyes open. Botox is the same medication that some people use to smoothen out skin wrinkles. Here is an excellent video of the process: https://www.youtube.com/watch?v=7BaAanD0lVY&t=60s Botox injections are relatively safe. It takes about 5-10 minutes in the doctor’s office. The main downside is that they are somewhat expensive. Reference / Additional reading: A Review of Treatment Options for Progressive Supranuclear Palsy – Stamelou et al., CNS drugs – 2016 Will Deep Brain Stimulation (DBS) be the Miracle Cure for PSP? DBS is