DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.
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ABSTRACT:
SUBMITTER: Chung CT
PROVIDER: S-EPMC9829698 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Publications
<i>DYNC1H1</i> variant associated with epilepsy: Expanding the phenotypic spectrum.
Chung Chi-Ting CT Lee Ni-Chung NC Fan Sung-Pin SP Hung Miao-Zi MZ Lin Yen-Heng YH Chen Chih-Hao CH Jao Tun T
Epilepsy & behavior reports 20221228
<i>DYNC1H1</i> variants are associated with peripheral neuronal dysfunction and brain morphology abnormalities resulting in neurodevelopmental delay. However, few studies have focused on the association between <i>DYNC1H1</i> variants and epilepsy. Herein, we report a case of drug-resistant focal epilepsy associated with a pathogenic variant of <i>DYNC1H1</i>. We further summarized the clinical, genetic, and neuroimaging characteristics of patients with <i>DYNC1H1</i> variant-associated epilepsy ...[more]
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