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

被引：17
|
作者：
Kolnikova, Miriam [1 ,2 ]
Skopkova, Martina [3 ]
Ilencikova, Denisa [2 ,4 ]
Foltan, Tomas [1 ,2 ]
Payerova, Jaroslava [1 ,2 ]
Danis, Daniel [3 ]
Klimes, Iwar [3 ]
Stanik, Juraj [2 ,3 ,4 ]
Gasperikova, Daniela [3 ]
机构：
[1] Comenius Univ, Dept Pediat Neurol, Fac Med, Bratislava, Slovakia
[2] Children Fac Hosp, Bratislava, Slovakia
[3] Slovak Acad Sci, Inst Expt Endocrinol, Biomed Res Ctr, Lab Diabet & Metab Disorders, Dubravska Cesta 9, Bratislava 84505, Slovakia
[4] Comenius Univ, Dept Pediat, Fac Med, Bratislava, Slovakia
来源：
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2018年 / 56卷
关键词：
Dynamin; 1; DNM1; gene; Epileptic encephalopathy; Hypomyelination;
D O I：
10.1016/j.seizure.2018.01.020
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：31 / 33
页数：3
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