Details

Autor(en) / Beteiligte

• Li, Hua
• Fang, Fang
• Xu, Manting
• Liu, Zhimei
• Zhou, Ji
• Wang, Xiaohui
• Wang, Xiaofei
• Han, Tongli

Titel

Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation

Ist Teil von

• Frontiers in pharmacology, 2019-12, Vol.10, p.1454-1454

Ort / Verlag

Switzerland: Frontiers Media S.A

Erscheinungsjahr

2019

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Epileptic encephalopathy, caused by mutations in the dynamin-1 ( ; NM_004408) gene, is a newly identified neurologic disorder in children. Thus far, the full clinical and electroencephalographic features of children with 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 mutation-related epileptic encephalopathy. Here, we investigated a patient with a novel pathogenic 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 " " 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 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.