Article
Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.
Brain & development - 1 Jan 2016
Dilena Robertino, Striano Pasquale, Traverso Monica, Viri Maurizio, Cristofori Gloria, Tadini Laura, Barbieri Sergio, Romeo Antonino, Zara Federico
Abstract excerpt
BACKGROUND: Syntaxin Binding Protein 1 (STXBP1) mutations determine a central neurotransmission dysfunction through impairment of the synaptic vesicle release, thus causing a spectrum of phenotypes varying from syndromic and non-syndromic epilepsy to intellectual disability of variable degree. Among the antiepileptic drugs, levetiracetam has a unique mechanism of action binding SV2A, a glycoprotein of the...
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