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

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

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

(2010) Christel Depienne et al.   HUMAN MUTATION

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

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

Mutational spectrum ofCDKL5in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

(2009) C Nemos et al.   CLINICAL GENETICS

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

The three stages of epilepsy in patients withCDKL5mutations

(2008) Nadia Bahi-Buisson et al.   EPILEPSIA

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

Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature

(2007) Maria Pintaudi et al.   EPILEPSY & BEHAVIOR