FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy-Reference-Cited by-同舟云学术

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy

Published:2017-01 Issue: Volume:129 Page:118-124
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Cho Jae So,Kim Seung Hyo,Kim Ha Young,Chung Taesu,Kim Dongsup,Jang Sesong,Lee Seung Bok,Yoo Seung Keun,Shin Jongyeon,Kim Jong-il,Kim Hunmin,Hwang Hee,Chae Jong-Hee,Choi Jieun,Kim Ki Joong,Lim Byung Chan

Funder

Ministry of Science, ICT & Future Planning

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference20 articles.

1. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency;Almalki;Biochim. Biophys. Acta,2014

2. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009;Berg;Epilepsia,2010

3. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder;Coughlin;J. Med. Genet.,2015

4. POLG mutations and Alpers syndrome;Davidzon;Ann. Neurol.,2005

5. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies;Diodato;Hum. Mutat.,2014

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2. Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2;European Journal of Medical Research;2022-09-26

3. FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism;Nucleic Acids Research;2021-12-08

4. Developmental Angiogenesis Requires the Mitochondrial Phenylalanyl-tRNA Synthetase;Frontiers in Cardiovascular Medicine;2021-09-01

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