Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.
Magistrati M et al.
International Journal of Molecular Sciences, 2025
Clinical and genetic characterization of DNM1l-related disorders: insights into genotype-phenotype correlations.
Manting X et al.
Frontiers in Pediatrics, 2025
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Nolden KA et al.
Life Science Alliance, 2022
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.
Yang Y et al.
Npj Genomic Medicine, 2022
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
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Longo F et al.
Human Molecular Genetics, 2020
A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy.
Schmid SJ et al.
Neuropediatrics, 2019
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
The expanding neurological phenotype of DNM1L-related disorders.
Wangler MF et al.
Brain : a Journal of Neurology, 2018
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
Nasca A et al.
Human Mutation, 2016
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