Associated Papers
Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.
Liu J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
Harms FL et al.
Neurogenetics, 2023
Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1.
Mei D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023
Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
Afsar T et al.
Frontiers in Pediatrics, 2023
Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report.
Choi E et al.
Neurology. Genetics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
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