Role of TRAK1 variants in epilepsy: genotype–phenotype analysis in a pediatric case of epilepsy with developmental disorder

Role of TRAK1 variants in epilepsy: genotype–phenotype analysis in a pediatric case of epilepsy with developmental disorder

PurposeThe TRAK1 gene is mapped to chromosome 3p22.1 and encodes trafficking protein kinesin binding 1. The aim of this study was to investigate the genotype–phenotype of TRAK1-associated epilepsy.MethodsTrio-based whole-exome sequencing was performed on a cohort of 98 patients with epilepsy of unkn...

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Bibliographic Details
Main Authors: Ren-Ke Li, Yu-Rong Xiong, Shu-Jing Pan, Wen-Ting Lei, Xiao-Mei Shu, Xiao-Qi Shi, Mao-Qiang Tian
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-02-01
Series:Frontiers in Molecular Neuroscience
Subjects:
TRAK1 gene
epilepsy
biallelic variant
genotype and phenotype
developmental disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2024.1342371/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2024.1342371/full

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