Genetic etiologies of epileptic encephalopathies

被引：0
|
作者：
von Spiczak, S. [1 ,2 ]
Caliebe, A. [2 ,3 ]
Muhle, H. [1 ,2 ]
Helbig, I. [1 ,2 ]
Stephani, U. [1 ,2 ]
机构：
[1] Univ Klinikum Schleswig Holstein, Klin Neuropadiat, Campus Kiel, Arnold Heller Str 3 Haus 9, D-24105 Kiel, Germany
[2] Univ Kiel, Kiel, Germany
[3] Univ Klinikum Schleswig Holstein, Inst Humangenet, Campus Kiel, Kiel, Germany
来源：
ZEITSCHRIFT FUR EPILEPTOLOGIE | 2011年 / 24卷 / 02期
关键词：
Epileptic encephalopathy; West syndrome; Dravet syndrome; Vitamin B6; Glucose transporter type 1;
D O I：
10.1007/s10309-011-0169-7
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Genetically determined disorders comprise an important etiological entity for severe infantile epilepsies and epileptic encephalopathies. In the past decade, several causative genes have been identified. In addition, clinical genetic studies have revealed a broadened phenotypic spectrum for various disease-related genes. Identification of the underlying genetic causes will allow for an etiological diagnosis and genetic counseling of affected families. In addition, specific therapeutic options exist for several disorders. In this review, the clinical picture, genetic causes, and relevant therapeutic options are described. Furthermore, the diagnostic relevance of genetic testing with regard to particular genes and disease entities is evaluated.
引用
收藏
页码：108 / 113
页数：6
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