A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

(2011) Cyril Mignot et al.   EPILEPSIA

Intellectual disability without epilepsy associated with STXBP1 disruption

(2011) Fadi F Hamdan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Epilepsies and epileptic syndromes starting in the neonatal period

(2010) Hitoshi Yamamoto et al.   BRAIN & DEVELOPMENT

Genetic testing in the epilepsies-Report of the ILAE Genetics Commission

(2010) Ruth Ottman et al.   EPILEPSIA

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

(2010) Hirotomo Saitsu et al.   EPILEPSIA

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study

(2010) Motoko Otsuka et al.   EPILEPSIA

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

(2010) L. Deprez et al.   NEUROLOGY

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

(2009) Fadi F. Hamdan et al.   ANNALS OF NEUROLOGY

Munc18a controls SNARE assembly through its interaction with the syntaxin N-peptide

(2008) Pawel Burkhardt et al.   EMBO JOURNAL

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Conformational Switch of Syntaxin-1 Controls Synaptic Vesicle Fusion

(2008) Stefan H. Gerber et al.   SCIENCE