Associated Papers
Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations.
Osawa MT et al.
Pediatric Research, 2025
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.
Magistrati M et al.
International Journal of Molecular Sciences, 2025
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Clinical and genetic characterization of DNM1l-related disorders: insights into genotype-phenotype correlations.
Manting X et al.
Frontiers in Pediatrics, 2025
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.
Baum TB et al.
Biorxiv : the Preprint Server for Biology, 2024
Disease-associated mutations in Drp1 have fundamentally different effects on the mitochondrial fission machinery.
Bauer BL et al.
Human Molecular Genetics, 2023
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
DRP1 mutations associated with EMPF1 encephalopathy alter mitochondrial membrane potential and metabolic programs.
Robertson GL et al.
Journal of Cell Science, 2023
DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome
De Souza Crippa AC et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2022
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA et al.
Life Science Alliance, 2022
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease.
Wu T et al.
Pediatric Neurology, 2022
Epilepsia partialis continua associated with the p.Arg403Cys variant of the DNM1L gene: an unusual clinical progression with two episodes of super-refractory status epilepticus with a 13-year remission interval.
Minghetti S et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2022
[Analysis of DNM1L gene variant in a case of fatal encephalopathy caused by mitochondrial peroxidase division deficiency].
Chen X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
[DNM1L gene variant caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1: three cases report and literature review].
Pan Z et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis.
Mancardi MM et al.
Brain & Development, 2021
Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy.
Wei Y et al.
Frontiers in Pediatrics, 2021
DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review.
Liu X et al.
Frontiers in Pediatrics, 2021
Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease.
Fine AL et al.
Frontiers in Neurology, 2021
De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.
McCormack M et al.
European Journal of Medical Genetics, 2020
Open and cut: allosteric motion and membrane fission by dynamin superfamily proteins.
Kalia R et al.
Molecular Biology of the Cell, 2019
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.
Assia Batzir N et al.
Cold Spring Harbor Molecular Case Studies, 2019
A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.
Schmid SJ et al.
Neuropediatrics, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Verrigni D et al.
Human Mutation, 2019
A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype.
Nolan DA et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2019
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.
Whitley BN et al.
Human Molecular Genetics, 2018
De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.
Ryan CS et al.
Journal of Child Neurology, 2018
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity.
Ladds E et al.
Neurology. Genetics, 2018
The expanding neurological phenotype of DNM1L-related disorders.
Wangler MF et al.
Brain : a Journal of Neurology, 2018
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
Fahrner JA et al.
American Journal of Medical Genetics. Part A, 2016