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Published on: January 29, 2018
Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation
Hua Li1, Fang Fang1, Manting Xu1
1Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Insights
Dynamin-1 (DNM1) gene mutations cause a severe epileptic encephalopathy in children. This study characterizes the clinical, genetic, and EEG features of DNM1-related epileptic encephalopathy, identifying common phenotypes.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Epileptic encephalopathy is a severe neurologic disorder in children.
- Mutations in the dynamin-1 (DNM1) gene are a newly identified cause.
- Comprehensive characterization of DNM1-related epileptic encephalopathy is lacking.
Purpose of the Study:
- To characterize the phenotypic, genetic, and electroencephalographic features of children with DNM1 mutation-related epileptic encephalopathy.
- To investigate a patient with a novel pathogenic DNM1 variant.
- To analyze clinical features from reported cases.
Main Methods:
- Investigated a pediatric patient with a novel pathogenic DNM1 variant.
- Conducted an extensive literature search (PubMed, EMBASE, etc.) for "DNM1" from Jan 2013 to Dec 2018.
- Analyzed clinical features of 33 cases with pathogenic DNM1 variants.
Main Results:
- Patients with pathogenic DNM1 variants present with epileptic encephalopathy and severe neurodevelopmental symptoms.
- Variants in the GTPase or middle domains of DNM1 are associated with these phenotypes.
- Pathogenic variants in both domains showed comparable phenotypes.
Conclusions:
- DNM1 mutations are a significant cause of early-onset epileptic encephalopathy.
- Specific domains within the DNM1 gene are implicated in disease presentation.
- Further research is needed to fully understand the genotype-phenotype correlations.
Abstract:
Epileptic encephalopathy, caused by mutations in the dynamin-1 (DNM1; NM_004408) gene, is a newly identified neurologic disorder in children. Thus far, the full clinical and electroencephalographic features of children with DNM1 mutation-related epileptic encephalopathy have not been established. The aim of this study is to characterize the phenotypic, genetic, and electroencephalographic features of children with DNM1 mutation-related epileptic encephalopathy. Here, we investigated a patient with a novel pathogenic DNM1 variant, who received treatment in Beijing Children's Hospital and had detailed clinical, EEG, and genetic information. Conversely, we performed an extensive literature search in PubMed, EMBASE, Cochrane Central Register of Controlled Trials, Chinese BioMedical Literature Database, China National Knowledge Infrastructure, and Wanfang Database using the term "DNM1" and were able to find 32 cases reported in nine articles (in English) from January 2013 to December 2018. The clinical features of 33 cases with pathogenic DNM1 variants were analyzed and the results showed that patients carrying pathogenic variants in the GTPase or middle domains present with epileptic encephalopathy and severe neurodevelopmental symptoms. Patients carrying pathogenic variants in both domains exhibited comparable phenotypes.
