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Epilepsy

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Myoclonic epilepsy refers to a group of epileptic disorders which present with sudden, brief, and involuntary muscle jerks.

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A 26 year-old woman comes into the emergency room because of a seizure. She has a past medical history of epilepsy, diagnosed when she was a child. This episode was not like the previous seizures. On examination, the patient is weak in her right upper and lower extremities but has normal strength on her left side. The patient is alert and oriented and follows commands appropriately. Physical examination is otherwise normal. The seizure happened about 3 hours ago and involved clonic spasms of her entire right side which rapidly spread to encompass her entire body. Which of the following is the most likely diagnosis?

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Content Reviewers:

Rishi Desai, MD, MPH

Contributors:

Tanner Marshall, MS

Epilepsy means “seizure disorder”, so people with epilepsy have recurring and unpredictable seizures. A seizure is a period where cells in the brain, or neurons, are synchronously active, or active at the same time, when they’re not supposed to be.

Now when I say that neurons are “active”, I mean that they’re firing or sending a message using electrical signals relayed from neuron to neuron.

And if you look at a neuron under a microscope, each electrical signal that passes through it is really just ions flowing in and out of it through protein channels.

The way this ion flow is controlled is through neurotransmitters, a type of signaling molecule, and receptors. Neurotransmitters bind to the receptors and basically tell the cell to either open up the ion channels and relay the electrical message, called excitatory neurotransmitters, or close the ion channels and stop the electrical message, called inhibitory neurotransmitters.

During a seizure, clusters of neurons in the brain become temporarily impaired and start sending out a ton of excitatory signals, over and over again, and these are sometimes said to be paroxysmal.

These paroxysmal electrical discharges are thought to happen due to either too much excitation, or too little inhibition (which are kinda two sides of the same coin, right?).

The main excitatory neurotransmitter in the brain is glutamate, and NMDA is the primary receptor that responds to glutamate by opening ion channels that let calcium in, a positive ion that tells the cell to send signals.

Some patients with epilepsy seem to have fast or long-lasting activation of these receptors. On the flip side, the main inhibitory neurotransmitter in the brain is GABA, which binds to GABA receptors that tell the cell to inhibit the signal by opening channels that let in chloride ions, which are negative ions that tell the cell to inhibit signals.

Some patients with epilepsy seem to have genetic mutations in which their GABA receptors are dysfunctional, and so they aren’t able to help inhibit signals.

In addition to potentially having a primary genetic cause, though, these receptors and ion channels might be affected by all sorts of things like brain tumors, brain injury or infection.

Whether it’s a decrease in inhibition or an increase in activation, when groups of neurons start firing simultaneously, over and over, it’s often noticed by others as obvious outward signs, like jerking, moving, and losing consciousness, but can also be subjective experiences that are only noticed by the person experiencing it, like fears or strange smells, it all depends on which neurons in the brain are affected.

People with epilepsy experience recurring episodes of some form of seizures, and we can start grouping the seizures by the region of the brain that’s affected.

When the affected area is limited to one hemisphere - or one half of the brain - or sometimes even a smaller area like a single lobe, we call it a focal seizure (though it used to be called a partial seizure).

These seizures are subcategorized as either without impaired awareness or with impaired awareness. Those without impaired awareness typically affect a small area of the brain, and can involve the person experiencing strange sensations, like hearing or tasting something, but can also involve jerking movements in specific muscle groups if the neurons controlling those muscles are affected

If the jerking activity starts in a specific muscle group, and spreads to surrounding muscle groups as more neurons are affected, it’s referred to as a Jacksonian march.

Typically, the person is awake and alert and will usually know that something is happening and will remember the seizure afterwards.

Focal seizures with impaired awareness, on the other hand, involve having some sort of loss of awareness and responsiveness, so they might not remember exactly what happened during a seizure.

Now, in contrast to the focal seizure, a generalized seizure is where both hemispheres of the brain are affected. Sometimes, a seizure will start out as a focal seizure and then quickly spread to other areas, develop into a generalized seizure.

This used to be called a “secondary generalized seizure” but the preferred term today is “ focal seizure evolving to a bilateral tonic-clonic seizur

One subtype is a tonic seizure, where the muscles all the sudden become stiff and flexed, which can cause the patient to fall, often backwards.

On the flipside, they can be atonic as well, where their muscles suddenly relax and become floppy, which again can cause the patient to fall, but this time forward.