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Article

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2016

Gburek-Augustat Janina, Beck-Woedl Stefanie, Tzschach Andreas, Bauer Peter, Schoening Martin, Riess Angelika

Abstract excerpt

BACKGROUND: Mutations in the STXBP1 gene (MUNC18-1) were first described to cause Ohtahara syndrome (Early infantile epileptic encephalopathy, EIEE)(12-14) characterized by very early infantile epileptic encephalopathy with frequent tonic spasms and a suppression-burst pattern on electroencephalogram. In the following years a wider phenotype was recognized having milder forms of epilepsies. All patients showed...

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Source

Identifiers

PMID: 27184330
DOI: 10.1016/j.ejpn.2016.04.005

Genes

STXBP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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