Associated Papers
RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.
Drongitis D et al.
Frontiers in Molecular Biosciences, 2025
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy.
Jones DJ et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
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
The dynamin Vps1 mediates Atg9 transport to the sites of autophagosome formation.
Arlt H et al.
The Journal of Biological Chemistry, 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
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
DNM1 encephalopathy: A new disease of vesicle fission.
von Spiczak S et al.
Neurology, 2017
Insights into dynamin-associated disorders through analysis of equivalent mutations in the yeast dynamin Vps1.
Moustaq L et al.
Microbial Cell (graz, Austria), 2016
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
De novo DNM1 mutations in two cases of epileptic encephalopathy.
Nakashima M et al.
Epilepsia, 2016
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
Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.
Dhindsa RS et al.
Neurology. Genetics, 2015
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
Unknown Author
American Journal of Human Genetics, 2014
Breaking the Synaptic Vesicle Cycle: Mechanistic Insights into Presynaptic Dysfunctions in Epilepsy.
Jiang K et al.
Epilepsy Currents, 0