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Article

DYNC1H1-related epilepsy: Genotype-phenotype correlation.

Developmental medicine and child neurology - 1 Apr 2023

Liu Wenwei, Cheng Miaomiao, Zhu Ying, Chen Yi, Yang Ying, Chen Hui, Niu Xueyang, Tian Xiaojuan, Yang Xiaoling, Zhang Yuehua

Abstract excerpt

AIM: To explore the phenotypic spectrum and refine the genotype-phenotype correlation of DYNC1H1-related epilepsy. METHOD: The clinical data of 15 patients with epilepsy in our cohort and 50 patients with epilepsy from 24 published studies with the DYNC1H1 variants were evaluated. RESULTS: In our cohort, 13 variants were identified from 15 patients (seven males, eight females). Twelve variants were de novo and...

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Identifiers

PMID: 36175372
DOI: 10.1111/dmcn.15414

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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