Genetic syndromes associated with frontal lobe epilepsy; [Genetische Syndrome in Zusammenhang mit Frontallappenepilepsie]

被引：0
作者：
Fehr C. [1 ]
Klein K.M. [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
机构：
[1] Department of Clinical Neurosciences, Cumming School of Medicine, Foothills Medical Centre, University of Calgary, 1403 29 Street NW, Calgary, T2N 2T9, AB
[2] Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB
[3] Department of Community Health Sciences, Cumming School of Medicine, University of Calgary, Calgary, AB
[4] Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB
[5] Alberta Children’s Hospital Research Institute, University of Calgary, Calgary, AB
[6] Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Center of Neurology and Neurosurgery, University Hospital, Goethe-University Frankfurt, Frankfurt
[7] Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt
来源：
Zeitschrift für Epileptologie | 2022年 / 35卷 / 1期
基金：
加拿大健康研究院;
关键词：
Epilepsy; Familial focal epilepsy with variable foci; Genetics; Nocturnal frontal lobe epilepsy; Sleep-related hypermotor epilepsy;
D O I：
10.1007/s10309-021-00455-8
中图分类号：
学科分类号：
摘要：
Sleep-related hypermotor epilepsy (SHE), previously called “nocturnal frontal lobe epilepsy,” is characterized by the occurrence of brief seizures with stereotyped motor patterns that are frequently hypermotor in nature and predominantly occur during sleep. Generally, SHE may follow autosomal dominant inheritance due to pathogenic variants in the genes CHRNA4, CHRNB2, CHRNA2, and KCNT1. It can also occur as part of the spectrum of familial focal epilepsy with variable foci, which is an epilepsy syndrome with autosomal dominant inheritance due to pathogenic variants in the genes DEPDC5, NPRL2, and NPRL3. A recessive mode of inheritance in SHE with pathogenic variants in PRIMA1 has been described as well. However, the phenotypic features in SHE are not specific for a genetic etiology and can be observed in patients with other or unknown etiology. © 2021, The Author(s), under exclusive licence to Deutsche Gesellschaft für Epileptologie e.V.
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页码：32 / 35
页数：3
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