Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case

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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Bibliographic Details
Main Authors: T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko
Format: Article
Language:Russian
Published: IRBIS LLC 2019-04-01
Series:Эпилепсия и пароксизмальные состояния
Subjects:
aldh7a1 gene
pyridoxal phosphate-dependent neonatal epileptic encephalopathy
psychomotor development delay
targeted exome sequencing
pyridoxine
Online Access:https://www.epilepsia.su/jour/article/view/459

Internet

https://www.epilepsia.su/jour/article/view/459

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