<i>DYNC1H1</i> variant associated with epilepsy: Expanding the phenotypic spectrum.

Chung, Chi-Ting; Lee, Ni-Chung; Fan, Sung-Pin; Hung, Miao-Zi; Lin, Yen-Heng; Chen, Chih-Hao; Jao, Tun

DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.

Chung, Chi-Ting; Lee, Ni-Chung; Fan, Sung-Pin; Hung, Miao-Zi; Lin, Yen-Heng; Chen, Chih-Hao; Jao, Tun.

Afiliación

Chung CT; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Lee NC; Department of Neurology, National Taiwan University, Taipei, Taiwan.
Fan SP; Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Hung MZ; Department of Medical Genetics, National Taiwan University, Taipei, Taiwan.
Lin YH; Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Chen CH; Department of Neurology, National Taiwan University, Taipei, Taiwan.
Jao T; Department of Medical Genetics, National Taiwan University, Taipei, Taiwan.

Epilepsy Behav Rep ; 21: 100580, 2023.

Article en En | MEDLINE | ID: mdl-36636459

Palabras clave

CMT, CharcotMarieTooth disease; EEG, electroencephalography; Epilepsy; ID, intellectual disability; Intellectual disability; MCD, malformation of cortical development; MRI, magnetic resonance imaging; Malformations of cortical development; Neurodevelopmental delay; Pathogenic DYNC1H1 variant; SMALED, spinal muscular atrophy with lower extremity-predominance

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Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Risk_factors_studies Idioma: En Revista: Epilepsy Behav Rep Año: 2023 Tipo del documento: Article País de afiliación: Taiwán

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