Genetic Testing in Epilepsy: What Should You Be Doing?

被引：26

作者：

Scheffer, Ingrid E. ^{[1
,2
,3
]}

机构：

[1] Univ Melbourne, Austin & Royal Childrens Hosp, Dept Med, Melbourne, Vic 3010, Australia

[2] Univ Melbourne, Austin & Royal Childrens Hosp, Dept Paediat, Melbourne, Vic 3010, Australia

[3] Austin Hlth, Melbourne, Vic, Australia

来源：

EPILEPSY CURRENTS | 2011年 / 11卷 / 04期

关键词：

IDIOPATHIC GENERALIZED EPILEPSY; GLUT-1 DEFICIENCY SYNDROME; GLUCOSE-TRANSPORTER GLUT1; BLOOD-BRAIN-BARRIER; DE-NOVO MUTATIONS; MENTAL-RETARDATION; 15Q13.3; MICRODELETIONS; DEVELOPMENTAL DELAY; CDKL5; MUTATIONS; ENCEPHALOPATHY;

D O I：

10.5698/1535-7511-11.4.107

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

With the burgeoning array of molecular tests available in the epilepsies, the clinician needs to know which tests to order for each patient. Epileptic encephalopathies are the most important clinical group for genetic testing with an increasing number of distinctive epilepsy syndromes being recognized. Identification of the causative mutation affects treatment as well as prognostic and genetic counseling.

引用

页码：107 / 111

页数：5

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