Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG and TOR1A

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

(2011) H Saitsu et al.   CLINICAL GENETICS

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

Intellectual disability without epilepsy associated with STXBP1 disruption

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

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

(2011) Marian A.J. Weterman et al.   HUMAN MOLECULAR GENETICS

Solving the Autism Puzzle a Few Pieces at a Time

(2011) Christian P. Schaaf et al.   NEURON

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

(2010) Hirotomo Saitsu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary hemorrhagic telangiectasia: two distinctENGdeletions in one family

(2010) W Wooderchak et al.   CLINICAL GENETICS

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

Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

(2010) Kyoko Kanazawa et al.   MOVEMENT DISORDERS

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

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

(2010) L. Deprez et al.   NEUROLOGY

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

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

Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia

(2009) M Shoukier et al.   CLINICAL GENETICS

Clinical Evaluation and Diagnosis of Severe Epilepsy Syndromes of Early Childhood

(2009) Mary L. Zupanc   JOURNAL OF CHILD NEUROLOGY

The functional organization and assembly of the axon initial segment

(2008) Yasuhiro Ogawa et al.   CURRENT OPINION IN NEUROBIOLOGY

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