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Article

De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy.

Epilepsia - 1 Nov 2023

Liu Nana, Li Jinliang, Gao Kai, Perszyk Riley E, Zhang Jing, Wang Jingmin, Wu Ye, Jenkins Andrew, Yuan Hongjie, Traynelis Stephen F, Jiang Yuwu

Abstract excerpt

OBJECTIVE: To investigate the clinical features and potential pathogenesis mechanism of de novo CLPTM1 variants associated with epilepsy. METHODS: Identify de novo genetic variants associated with epilepsy by reanalyzing trio-based whole-exome sequencing data. We analyzed the clinical characteristics of patients with these variants and performed functional in vitro studies in cells expressing mutant complementary...

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Identifiers

PMID: 37577761
DOI: 10.1111/epi.17746
PMCID: PMC10840799

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