| Autor: |
Katharina Burghardt, Naomi Baba, Isolde Schreyer, Irene Graneß, Christian A. Hübner |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Epilepsy & Behavior Reports, Vol 15, Iss , Pp 100391- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2589-9864 |
| DOI: |
10.1016/j.ebr.2020.100391 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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