Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency : report of two cases and literature review

Objective: To summarize the clinical features of two early onset epileptic encephalopathy (EOEE) patients with arginyl-tRNA synthetase (RARS2) gene variations and to review related literature. Methods: The clinical data and genetic features of two pontocerebellar hypoplasia type 6 (PCH6) patients wi...

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Publié dans:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 11 vom: 02. Nov., Seite 893-899
Auteur principal:	Jiang, H F (Auteur)
Autres auteurs:	Deng, J, Fang, F, Li, H, Wang, X H, Dai, L F
Format:	Article en ligne
Langue:	Chinese
Publié:	2020
Accès à la collection:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets:	Case Reports Journal Article Review Early onset epileptic encephalopathy Epilepsy Genes, RARS2 Pontocerebellar hypoplasia type 6 Arginine-tRNA Ligase EC 6.1.1.19 RARS2 protein, human