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Article

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

Epilepsy research - 1 Jan 2017

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

Abstract excerpt

Early-onset epileptic encephalopathy (EOEE) consists of a heterogeneous group of epilepsy phenotypes. Recent technological advances in molecular biology have also rapidly expanded the genotype of EOEE. Genes involved in diverse molecular pathways, including ion channels, synaptic structure, transcription regulation, and cellular growth, have been implicated in EOEE. Mitochondrial aminoacyl tRNA synthetase, which...

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Source

Identifiers

PMID: 28043061
DOI: 10.1016/j.eplepsyres.2016.11.022

Genes

FARS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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