STX1B-related epilepsy in a 24-month-old female infant / Katharina Burghardt, Naomi Baba, Isolde Schreyer, Irene Graneß, Christian Hübner

Abstract: We report on a 24-month-old girl with age-appropriate development and normal intellectual ability suffering from myoclonic astatic epilepsy. Panel-based sequencing of roughly 1,500 genes associated with neurodevelopmental and metabolic diseases identified a heterozygous de novo point mutation in STX1B (c.733C>T or p.Arg245*). STX1B variants are associated with a broad phenotypic spectrum of epilepsies including febrile or afebrile seizures as well as epileptic encephalopathies. STX1B encodes Syntaxin-1B which plays a role for synaptic transmission. Our patient adds to the spectrum of STX1B associated phenotypes. Keywords: STX1B;genetics; epilepsy; myoclonic astatic epilepsy

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Persons: Burghardt, Katharina [Author]; Baba, Naomi [Author]; Schreyer, Isolde [Author]; Graneß, Irene [Author]; Hübner, Christian [Author]
Format: eArticle
Language(s):English
Publication:2020
Part of:Epilepsy & behavior reports 14(2020)
ISSN:2589-9864
DOI:10.1016/j.ebr.2020.100391