Associated Papers
Long-Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy.
Drackley A et al.
American Journal of Medical Genetics. Part A, 2025
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
Genotypes and phenotypes of DNM1 encephalopathy.
Kim J et al.
Journal of Medical Genetics, 2023
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
Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
Afsar T et al.
Frontiers in Pediatrics, 2023
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
32853554 (PubMed )
Supplement: mmc2.xlsx › S6
Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.
Li H et al.
Frontiers in Pharmacology, 2019
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.
Brereton E et al.
Molecular Genetics & Genomic Medicine, 2018
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Zhu X et al.
Plos Genetics, 2017
29186148 (PubMed )
Supplement: pgen.1007104.s002.xlsx › S1_Table
DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S et al.
Neurology, 2017
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy.
Asinof SK et al.
Plos Genetics, 2015
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
Unknown Author
American Journal of Human Genetics, 2014
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