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Definition

An autosomal dominant neurodegenerative disorder characterized by myoclonus, epileptic seizures, and progressive neurologic decline. Clinical features include normal or mildly delayed early development, developmental regression after seizures onset, inability to walk, severely impaired intellectual development, poor or absent speech, spasticity, ataxia, and intention tremor. Brain imaging shows cerebellar atrophy in some patients.

Acronym

EPM11

Keywords

Neurodegeneration
Epilepsy

 
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