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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

✍ Scribed by Mathieu Milh; Nathalie Villeneuve; Mondher Chouchane; Anna Kaminska; Cécile Laroche; Marie Anne Barthez; Cyril Gitiaux; Céline Bartoli; Ana Borges-Correia; Pierre Cacciagli; Cécile Mignon-Ravix; Hélène Cuberos; Brigitte Chabrol; Laurent Villard

Book ID
109113290
Publisher
Wiley (Blackwell Publishing)
Year
2011
Tongue
English
Weight
521 KB
Volume
52
Category
Article
ISSN
0013-9580

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✍ Hirotomo Saitsu; Noboru Igarashi; Mitsuhiro Kato; Ippei Okada; Tomoki Kosho; Osa 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 313 KB 👁 1 views

## Abstract Recent studies have shown that haploinsufficiency of __MEF2C__ causes severe intellectual disability, epilepsy, hypotonia, and cerebral malformations. We report on a female patient with severe intellectual disability, early‐onset epileptic encephalopathy, and hypoplastic corpus callosum