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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Principais autores:	T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko
Formato:	Artigo
Idioma:	Russo
Publicado em:	IRBIS LLC 2019-04-01
coleção:	Эпилепсия и пароксизмальные состояния
Assuntos:	aldh7a1 gene pyridoxal phosphate-dependent neonatal epileptic encephalopathy psychomotor development delay targeted exome sequencing pyridoxine
Acesso em linha:	https://www.epilepsia.su/jour/article/view/459
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