STX1B-related epilepsy in a 24-month-old female infant
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 STX1...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2021-01-01
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| Series: | Epilepsy & Behavior Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2589986420300393 |