Article
Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects.
Seizure - 1 Jan 2012
Craig Alexa K, de Menezes Marcio Sotero, Saneto Russell P
Abstract excerpt
PURPOSE: To review our cohort of patients with Dravet syndrome and determine if patients with SCN1A mutations can also express mitochondrial disease due to electron transport chain dysfunction. METHODS: A retrospective chart review was used to describe clinical manifestations and retrieve biochemical testing, neuroimaging, gene sequencing, and electroencephalographic results of patients expressing both...
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