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Early-Onset Epileptic Encephalopathies with STXBPl Mutations

Researchers at the Department of Molecular Genetics, University of Antwerp, and other centers in Belgium, The Netherlands, and Melbourne, Australia, analyzed the clinical phenotypes associated with STXBPl mutations in a cohort of 106 patients with unexplained early-onset epileptic encephalopathies.

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Autor principal: J Gordon Millichap
Formato: Artigo
Idioma:Inglês
Publicado em: Pediatric Neurology Briefs Publishers 2010-12-01
coleção:Pediatric Neurology Briefs
Assuntos:
early myoclonic encephalopathy
early-onset epileptic encephalopathy
ohtahara syndrome
Acesso em linha:https://www.pediatricneurologybriefs.com/articles/714
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