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

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

Highlights • 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.

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Veröffentlicht in:Epilepsy research 2017-01, Vol.129, p.118-124
Hauptverfasser: 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
Format: Artikel
Sprache:eng
Schlagworte:
Brain - diagnostic imaging
Early-onset epileptic encephalopathy
Epilepsy - diagnostic imaging
Epilepsy - genetics
FARS2
Female
Humans
Infant
Male
Mitochondrial Proteins - genetics
Mitochondrial Proteins - metabolism
Mitochondrial tRNA synthetase
Molecular Dynamics Simulation
Mutation, Missense
Neurology
Phenotype
Phenylalanine-tRNA Ligase - genetics
Phenylalanine-tRNA Ligase - metabolism
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Zusammenfassung:Highlights • 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.
ISSN:0920-1211
1872-6844
DOI:10.1016/j.eplepsyres.2016.11.022