Seizures in MECP2 Duplication Syndrome

This post is largely a discussion on one article on seizures in MECP2 Duplication Syndomre:

In 2009, Echenne and colleagues published an article on epilepsy in five boys with MECP2 Duplication Syndrome. They suggest that the seizures, EEG patterns, and MRI findings MECP2 Duplication syndrome are unique in some respects and recognizing them can become a key to diagnosis MECP2 Duplication Syndrome.

Here are some highlights form the article:

The onset of seizures in MECP2 Duplication syndrome is highly variable. They can be present early in life or may not occur until the second or 3rd decade of life.

Astatic (drops) and myoclonic (brief sudden spasms) seizures are very common in these individuals.

These astatic and myoclonic seizures tend to be associated with slowing of EEG background activity rather than the spikes or polyspikes that accompany them in most patients with these kinds of seizures.

A variety of other types of seizures also occur and the types of seizures  change over time for many of the patients.

Seizures tend to respond poorly to medical treatment.

Abnormal brain MRI findings are common among these patients but vary from patient to patient.

Echenne, B., Roubertie, A., Lugtenberg, D., Kleefstra, T., Hamel, B .C. J.,  Van Bokhoven, H., Lacombe, D.,  Philippe, C.,  Jonveaux, P., & de Brouwer, A.P.M†(2009). Neurologic Aspects of MECP2 Gene Duplication in Male Patients. Pediatric Neurology, 4(3), 187-191.

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One response to “Seizures in MECP2 Duplication Syndrome

  1. Don Van Duyse

    This information was helpful. I am a developmental disabilities case manager for a 20 yo in Chicago with MECP2 Duplication and we just completed a 24 hour EEG. We have seen episodes that look like brief spasms as well as drops. Now, when we get the results of the testing we will know to ask about slowing of background activity vs. spikes. Thanks.

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