Associated Papers
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC et al.
Seizure, 2024
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Liu W et al.
Developmental Medicine and Child Neurology, 2023
DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.
Chung CT et al.
Epilepsy & Behavior Reports, 2023
Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy.
Ji C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Su T et al.
Molecular Genetics & Genomic Medicine, 2022
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
Becker LL et al.
Journal of Human Genetics, 2020
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