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1. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1mutations

Author

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., and De Jonghe, P.

Abstract

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 STXBP1mutations, we analyzed a cohort of patients with unexplained early-onset epileptic encephalopathies.

Published
2010
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