Associated Papers
Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.
Balci TB et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B et al.
Brain : a Journal of Neurology, 2025
Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.
Gutiérrez-Delicado E et al.
Pediatric Neurology, 2025
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C et al.
Epilepsia, 2024
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
Amabile S et al.
American Journal of Medical Genetics. Part A, 2020
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
Lin Z et al.
Scientific Reports, 2017
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
Derksen A et al.
Child Neurology Open, 0
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