DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum

DYNC1H1 variants are associated with peripheral neuronal dysfunction and brain morphology abnormalities resulting in neurodevelopmental delay. However, few studies have focused on the association between DYNC1H1 variants and epilepsy. Herein, we report a case of drug-resistant focal epilepsy associa...

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Bibliographic Details
Main Authors: Chi-Ting Chung, Ni-Chung Lee, Sung-Pin Fan, Miao-Zi Hung, Yen-Heng Lin, Chih-Hao Chen, Tun Jao
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Epilepsy & Behavior Reports
Subjects:
Epilepsy
Intellectual disability
Malformations of cortical development
Neurodevelopmental delay
Pathogenic DYNC1H1 variant
Online Access:http://www.sciencedirect.com/science/article/pii/S2589986422000570

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http://www.sciencedirect.com/science/article/pii/S2589986422000570

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