Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genotypes and phenotypes of DNM1 encephalopathy.

Journal of medical genetics - 1 Nov 2023

Kim Jeehyun, Teng Lip-Yuen, Shaker Bilal, Na Dokyun, Koh Hyun Yong, Kwon Soon Sung, Lee Joon Soo, Kim Heung Dong, Kang Hoon-Chul, Kim Se Hee

Abstract excerpt

BACKGROUND: Variants in the dynamin-1 (DNM1) gene typically cause synaptopathy, leading to developmental and epileptic encephalopathy (DEE). We aimed to determine the genotypic and phenotypic spectrum of DNM1 encephalopathy beyond DEE. METHODS: Electroclinical phenotyping and genotyping of patients with a DNM1 variant were conducted for patients undergoing next-generation sequencing at our centre, followed by a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Diseases
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dynamins

Share to Epilepsy

Share to Genetic Association Studies

Share to Infant

Share to Intellectual Disability

Source

Identifiers

PMID: 37248033
DOI: 10.1136/jmg-2023-109233

Genes

DNM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypes and phenotypes of DNM1 encephalopathy.PMID 37248033Read ↗

Abnormal axonal development and severe epileptic phenotype in Dynamin-1 (DNM1) encephalopathy.Semantic proximity Read ↗

DNM1 encephalopathy: A new disease of vesicle fission.Semantic proximity Read ↗

Domain-Specific Genotype-Phenotype Correlations in DNM1L Disorders: Insights Into Mutation Hotspots and Clinical Severity.Semantic proximity Read ↗

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneitySemantic proximity Read ↗

Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.Semantic proximity Read ↗

Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities.Semantic proximity Read ↗

De novo DNM1 mutations in two cases of epileptic encephalopathy.Semantic proximity Read ↗

Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomesSemantic proximity Read ↗

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.Semantic proximity Read ↗

De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.Semantic proximity Read ↗

A novel de novo DNM1L mutation linked to mitochondrial fission dysfunction in a pediatric patient with epileptic encephalopathy and refractory seizuresSemantic proximity Read ↗

Long-Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.