Article
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
Neurology - 28 Sept 2010
Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic S F, Scheffer I, Ceulemans B, De Jonghe P
Abstract excerpt
OBJECTIVES: Heterozygous mutations in STXBP1, encoding the syntaxin binding protein 1, have recently been identified in Ohtahara syndrome, an epileptic encephalopathy with very early onset. In order to explore the phenotypic spectrum associated with STXBP1 mutations, we analyzed a cohort of patie...
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