Associated Papers
Progressive Cone-Rod Synaptic Dysfunction in Dynamin-1 ( DNM1 ) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in Human.
Marmoy OR et al.
Clinical Genetics, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 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
Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing Program.
Balci TB et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
Spontaneous Remission of Epileptic Seizures Following Norovirus Infection in a Patient With DNM1 Encephalopathy.
Kubota K et al.
Cureus, 2024
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
Genotypes and phenotypes of DNM1 encephalopathy.
Kim J et al.
Journal of Medical Genetics, 2023
Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy.
Bonnycastle K et al.
Nature Communications, 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
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
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.
AlTassan R et al.
Genes, 2022
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit G et al.
Journal of Medical Genetics, 2022
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.
Sahly AN et al.
Human Genetics, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2019
Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.
Li H et al.
Frontiers in Pharmacology, 2019
DNM1 Mutation in a child associated with progressive bilateral mesial temporal sclerosis.
Lazzara A et al.
Clinical Case Reports, 2018
Parental Mosaicism in "De Novo" Epileptic Encephalopathies.
Myers CT et al.
The New England Journal of Medicine, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer EE et al.
Molecular Genetics & Genomic Medicine, 2018
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
DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.
Kolnikova M et al.
Seizure, 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