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Article

Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.

Seizure - 1 Apr 2021

Krenn Martin, Schloegl Monika, Pataraia Ekaterina, Gelpi Ellen, Schröder Sebastian, Rauscher Christian, Mayr Johannes A, Kotzot Dieter, Zimprich Fritz, Meitinger Thomas, Wagner Matias

Abstract excerpt

OBJECTIVE: To further delineate the clinical and genetic spectrum of epileptic and neurodevelopmental conditions associated with variants in STX1B. METHODS: We screened our diagnostic in-house database (comprising >20,000 exome sequencing datasets) for pathogenic and likely pathogenic variants inSTX1B. The detected cases were phenotyped in detail, and the findings were compared to previously published case...

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PMID: 33677401
DOI: 10.1016/j.seizure.2021.02.027

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