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.
Highlights
Epileptic encephalopathy, caused by dynamin-1 (DNM1) mutations, is a newly characterized neurologic disorder in children (Kolnikova et al, 2018)
The DNM1 gene codes for the DNM1 protein is involved in the synaptic vesicle cycle that facilitates the exocytosis of neurotransmitters during receptor-mediated endocytosis, which is necessary for signaling pathway function and central nervous system development
DNM1 is a protein involved in the synaptic vesicle cycle, which facilitates the exocytosis of neurotransmitters necessary for normal signaling pathways and development in the central nervous system
Summary
Epileptic encephalopathy, caused by dynamin-1 (DNM1) mutations, is a newly characterized neurologic disorder in children (Kolnikova et al, 2018). Pathogenic DNM1 variants affect brain development and function and cause epileptic encephalopathy associated with severe neurodevelopmental complications (Allen et al, 2013; Appenzellar, 2014; Allen et al, 2016; Deng et al, 2016; Nakashima et al, 2016). Reported pathogenic variants of DNM1 have been associated with early onset of epileptic encephalopathy (including West and Lennox-Gastaut syndromes) and are present in up to 2% of patients with infantile spasms or Lennox-Gastaut syndrome (Appenzellar, 2014). The specific clinical and electroencephalographic features of children with DNM1 mutation-related epileptic encephalopathy have not been clearly established. We characterized the phenotypic, genetic, and electroencephalographic features of children with DNM1 mutation-related epileptic encephalopathy
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