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Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case
The article presents a clinical case of severe infantile generalized idiopathic epilepsy with status-like seizures, muscular dystonia and developmental delay. The examination included a phenotypic analysis: the course of the perinatal period, the nature of seizures, cognitive and behavioral disorder...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Russo |
| Publicado em: |
IRBIS LLC
2019-04-01
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| Colecção: | Эпилепсия и пароксизмальные состояния |
| Assuntos: | |
| Acesso em linha: | https://www.epilepsia.su/jour/article/view/459 |
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