Article
STXBP1 as a therapeutic target for epileptic encephalopathy.
Expert opinion on therapeutic targets - 1 Nov 2017
Stamberger Hannah, Weckhuysen Sarah, De Jonghe Peter
Abstract excerpt
INTRODUCTION: STXBP1 is an essential protein for presynaptic vesicle release. Mutations in STXBP1 have been associated with a series of (epileptic) neurodevelopmental disorders collectively referred to as STXBP1-encephalopathy (STXBP1-E). In this review we hypothesize about the potential of STXBP1 as a therapeutic target in the field of epileptic encephalopathies. Areas covered: A state of the art overview on...
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