STX1B-related epilepsy in a 24-month-old female infant

Katharina Burghardt; Naomi Baba; Isolde Schreyer; Irene Graneß; Christian A Hübner

doi:10.1016/j.ebr.2020.100391

STX1B-related epilepsy in a 24-month-old female infant

Epilepsy Behav Rep. 2020 Oct 14:15:100391. doi: 10.1016/j.ebr.2020.100391. eCollection 2021.

Authors

Katharina Burghardt¹, Naomi Baba¹, Isolde Schreyer¹, Irene Graneß², Christian A Hübner¹

Affiliations

¹ Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany.
² SRH Wald-Klinikum Gera, Department of Pediatrics, Gera, Germany.

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 1500 genes associated with neurodevelopmental and metabolic diseases identified a heterozygous de novo point mutation in STX1B (c.733C>T or p.Arg245*). STX1B encodes Syntaxin-1B which plays a role for synaptic transmission. STX1B variants are associated with a broad phenotypic spectrum of epilepsies including febrile or afebrile seizures as well as epileptic encephalopathies. Our patient with MAE adds to the spectrum of STX1B associated phenotypes.

Keywords: Epilepsy; Genetics; Myoclonic astatic epilepsy; STX1B.

Publication types

Case Reports