Pontocerebellar hypoplasia caused by the <i>TSEN54</i> mutation: clinical and electroencephalographic characteristics based on 3 cases
Pontocerebellar hypoplasia caused by the TSEN54 mutation is a severe hereditary disease with an autosomal recessive mode of inheritance, which is characterized by a combination of epileptic encephalopathy, motor disorders in the form of spasticity and hyperknesis, dysphagia and central respiratory f...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2024-07-01
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| Series: | Русский журнал детской неврологии |
| Subjects: | |
| Online Access: | https://rjdn.abvpress.ru/jour/article/view/474 |
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