Pitt–Hopkins syndrome with electrical status epilepticus in slow-wave sleep: a case report
Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features i...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2019-07-01
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| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/297 |
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