DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene

Seizure. 2018 Mar:56:31-33. doi: 10.1016/j.seizure.2018.01.020. Epub 2018 Feb 3.

¹ Department of Pediatric Neurology, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia.
² Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia.
³ Department of Pediatrics, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia.
⁴ Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; Department of Pediatrics, Medical Faculty of Comenius University and Children Faculty Hospital, Bratislava, Slovakia.
⁵ Laboratory of Diabetes and Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address: [email protected].

No abstract available

Keywords: DNM1 gene; Dynamin 1; Epileptic encephalopathy; Hypomyelination.

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