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Article

DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.

Seizure - 1 Mar 2024

Wu Wu-Chen, Liang Xiao-Yu, Zhang Dong-Ming, Jin Liang, Liu Zhi-Gang, Zeng Xiao-Lu, Zhai Qiong-Xiang, Liao Wei-Ping, He Na, Meng Xiang-Hong

Abstract excerpt

OBJECTIVES: The DYNC1H1 variants are associated with abnormal brain morphology and neuromuscular disorders that are accompanied by epilepsy. This study aimed to explore the relationship between DYNC1H1 variants and epilepsy. MATERIALS AND METHODS: Trios-based whole-exome sequencing was performed on patients with epilepsy. Previously reported epilepsy-related DYNC1H1 variants were systematically reviewed to...

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Identifiers

PMID: 37903666
DOI: 10.1016/j.seizure.2023.10.010

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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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