Epileptic encephalopathy caused by 1p36 deletion: literature review and case series
1p36 deletion syndrome (OMIM: 607872) is an autosomal dominant disease caused by a terminal deletion of the short arm of chromosome 1, characterized by specific craniofacial dysmorphism, delayed speech development and epilepsy. The severity of epilepsy is related to the size of the mutation.Objectiv...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2022-09-01
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| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/397 |