Associated Papers
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C et al.
Epilepsia, 2024
DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC et al.
Seizure, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Liu W et al.
Developmental Medicine and Child Neurology, 2023
Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation.
Mei Y et al.
Bmc Medical Genomics, 2023
DYNC1H1 variant associated with epilepsy: Expanding the phenotypic spectrum.
Chung CT et al.
Epilepsy & Behavior Reports, 2023
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Su T et al.
Molecular Genetics & Genomic Medicine, 2022
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
Infantile spasms: Etiology, lead time and treatment response in a resource limited setting.
Surana P et al.
Epilepsy & Behavior Reports, 2020
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29671837 (PubMed )
Supplement: NIHMS934304-supplement-Supplementary_table_2.pdf
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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