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Article

De Novo ACTB Variant Associated With Juvenile-Onset Temporal Lobe Epilepsy With Favorable Outcomes.

Human mutation - 1 Jan 2025

Yan Hong-Jun, Wang Peng-Yu, Liu Wen-Hui, Gu Yu-Jie, Pan Jia-Cheng, Li Hua, Luo Sheng

Abstract excerpt

Genetic factors are estimated to contribute to 80% of people with epilepsy. However, only four genes were reported to be associated with temporal lobe epilepsy (TLE). This study is aimed at investigating the association between ACTB and TLE. Trio-based exome sequencing was performed in a patient, and a de novo ACTB variant was identified. The patient presented with TLE featuring by age of onset in juvenile,...

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Identifiers

PMID: 40677923
DOI: 10.1155/humu/9951922
PMCID: PMC12267973

Genes

ACTB

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