Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation

Objective: to analyse the clinical and neurophysiological data from a case of early infantile epileptic encephalopathy type 16 in a child with homozygous mutation in TBC1D24 gene.Material and methods. Female child M. aged 1 year and 2 months, with identified mutations in TBC1D24 gene was examined. T...

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Main Authors: A. A. Kholin, I. D. Fedonyuk, O. P. Dovelman, N. N. Zavadenko, T. V. Kozhanova, E. A. Kholina, G. Sh. Khondkarian, E. S. Il`ina
Formato: Artigo
Idioma:Russo
Publicado em: IRBIS LLC 2020-01-01
Colecção:Эпилепсия и пароксизмальные состояния
Assuntos:
early infantile epileptic encephalopathy type 16
tbc1d24 gene
video-eeg monitoring
Acesso em linha:https://www.epilepsia.su/jour/article/view/499
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