| Autor: |
Gökhan, Yigit, Ruth, Sheffer, Muhannad, Daana, Yun, Li, Emrah, Kaygusuz, Hagar, Mor-Shakad, Janine, Altmüller, Peter, Nürnberg, Liza, Douiev, Silke, Kaulfuss, Peter, Burfeind, Bernd, Wollnik, Knut, Brockmann |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Journal of medical genetics. 59(6) |
| ISSN: |
1468-6244 |
| Popis: |
Developmental and epileptic encephalopathies (DEEs) represent a group of severe neurological disorders characterised by an onset of refractory seizures during infancy or early childhood accompanied by psychomotor developmental delay or regression. DEEs are genetically heterogeneous with, to date, more than 80 different genetic subtypes including DEE31 caused by heterozygous missense variants inWe performed a detailed clinical characterisation of two unrelated patients with DEE and used whole-exome sequencing to identify causative variants in these individuals. The identified variants were tested for cosegregation in the respective families.We excluded pathogenic variants in known, DEE-associated genes. We identified homozygous nonsense variants, c.97CT; p.(Gln33*) in family 1 and c.850CT; p.(Gln284*) in family 2, in theOur finding that homozygous, loss-of-function variants in |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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