DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.
Epilepsy Behav Rep
; 21: 100580, 2023.
Article
em En
| MEDLINE
| ID: mdl-36636459
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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MEDLINE
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Ano de publicação:
2023
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Article