Associated Papers
Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.
Choi SA et al.
Clinical and Experimental Pediatrics, 2026
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P et al.
Epilepsy Research, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
Cuccurullo C et al.
Epilepsia, 2024
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
Case report: Genotype and phenotype of DYNC1H1-related malformations of cortical development: a case report and literature review.
Ge WR et al.
Frontiers in Neurology, 2023
De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
Su T et al.
Molecular Genetics & Genomic Medicine, 2022
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
Benson KA et al.
European Journal of Human Genetics : Ejhg, 2020
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