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

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• 作者：Jae So Cho^a ; ^{gipumj@gmail.com} ; Seung Hyo Kim^b ; ^{aquack@hanmail.net} ; Ha Young Kim^c ; ^{ha01994@naver.com} ; Taesu Chung^d ; ^{hibissyria@gmail.com} ; Dongsup Kim^d ; ^{kds@kaist.ac.kr} ; Sesong Jang^e ; ^{ja_sesong_ng@hotmail.com} ; Seung Bok Lee^a ; ^{for3guy@naver.com} ; Seung Keun Yoo^e ; ^{ysk819@daum.net} ; Jongyeon Shin^e ; ^{jongyeon.anna@gmail.com} ; Jong-il Kim^e ; ^{jongil@snu.ac.kr} ; Hunmin Kim^f ; ^{hunminkim@hanmail.net} ; Hee Hwang^f ; ^{seizure@snu.ac.kr} ; Jong-Hee Chae^a ; ^{chaeped1@snu.ac.kr} ; Jieun Choi^g ; ^{jechoi66@snu.ac.kr} ; Ki Joong Kim^a ; ^{pednr@plaza.snu.ac.kr} ; Byung Chan Lim^a ; ^{prabbit7@snu.ac.kr}
• 关键词：FARS2 ; Early-onset epileptic encephalopathy ; Mitochondrial tRNA synthetase
• 刊名：Epilepsy Research
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：129
• 期：Complete
• 页码：118-124
• 全文大小：2111 K
• 卷排序：129

文摘

We report 4 new cases of FARS2 mutation presenting with infantile-onset epilepsy. Epilepsy phenotypes of 6 other reported FARS2 mutation-positive cases are reviewed. FARS2 may be one of the genetic causes of early-onset epileptic encephalopathy.