FARS2 Mutations: More Than Two Phenotypes? A Case Report

FARS2 Mutations: More Than Two Phenotypes? A Case Report

FARS2, a nuclear gene, encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS). Previous reports have described two distinct phenotypes linked to FARS2 gene mutation: an early onset epileptic encephalopathy and spastic paraplegia. This report describes a distinctive phenotype of FARS2-linke...

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Bibliographic Details
Main Authors: Mostafa Hotait, Wassim Nasreddine, Riyad El-Khoury, Maya Dirani, Omar Nawfal, Ahmad Beydoun
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-07-01
Series:Frontiers in Genetics
Subjects:
FARS2
refractory status epilepticus
juvenile onset epilepsy
mitochondrial tRNA synthetase
mitochondrial epilepsy
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00787/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00787/full

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