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Article

Phenotypic expansion of KCNH1-associated disorders to include isolated epilepsy and its associations with genotypes and molecular sub-regional locations.

CNS neuroscience & therapeutics - 1 Jan 2023

Tian Mao-Qiang, Li Ren-Ke, Yang Fan, Shu Xiao-Mei, Li Juan, Chen Jing, Peng Long-Ying, Yu Xiao-Hua, Yang Chang-Jian

Abstract excerpt

PURPOSE: Genotype-phenotypic correlation of KCNH1 variant remains elusive. This study aimed to expand the phenotypic spectrum of KCNH1 and explore the correlations between epilepsy and molecular sub-regional locations. METHODS: We performed whole-exome sequencing in a cohort of 98 patients with familiar febrile seizure (FS) or epilepsy with unexplained etiologies. The damaging effects of variants were predicted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36285361
DOI: 10.1111/cns.14001
PMCID: PMC9804083

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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