Head stereotypies inSTXBP1encephalopathy

Reduction of seizure frequency after epilepsy surgery in a patient withSTXBP1encephalopathy and clinical description of six novel mutation carriers

(2013) Sarah Weckhuysen et al.   EPILEPSIA

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

(2011) Cyril Mignot et al.   EPILEPSIA

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

(2011) Mathieu Milh et al.   EPILEPSIA

Paternal mosaicism of an STXBP1 mutation in OS

(2010) H Saitsu et al.   CLINICAL GENETICS

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

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

Motor stereotypy disorders

(2009) Deivasumathy Muthugovindan et al.   CURRENT OPINION IN NEUROLOGY

Motor Stereotypies

(2009) Harvey S. Singer   Seminars in Pediatric Neurology

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

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Nonautistic Motor Stereotypies: Clinical Features and Longitudinal Follow-Up

(2008) Kendra M. Harris et al.   PEDIATRIC NEUROLOGY