Advances on the Genetics of Mendelian Idiopathic Epilepsies

被引：19

作者：

Baulac, Stephanie ^{[1
]}

Baulac, Michel ^{[1
,2
]}

机构：

[1] Univ Paris 06, Hop La Pitie Salpetriere, UMR S975, CRICM,INSERM,CNRS,UMR 7225,U975, F-75013 Paris, France

[2] Hop La Pitie Salpetriere, AP HP, Ctr Epilepsy, F-75015 Paris, France

来源：

CLINICS IN LABORATORY MEDICINE | 2010年 / 30卷 / 04期

关键词：

Epilepsy; Febrile seizures; Idiopathic; Genes; Loci; FRONTAL-LOBE EPILEPSY; FEBRILE SEIZURES PLUS; FAMILIAL INFANTILE CONVULSIONS; LATERAL TEMPORAL EPILEPSY; NICOTINIC ACETYLCHOLINE-RECEPTOR; JUVENILE MYOCLONIC EPILEPSY; CHILDHOOD ABSENCE EPILEPSY; DOMINANT PARTIAL EPILEPSY; POTASSIUM CHANNEL GENE; AUTOSOMAL-DOMINANT;

D O I：

10.1016/j.cll.2010.07.008

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Genetic factors play an increasingly recognized role in idiopathic epilepsies. Since 1995, positional cloning strategies in multigenerational families with autosomal dominant transmission have revealed 11 genes (KCNQ2, KCNQ3, CHRNA4, CHRNA2, CHRNB2, SCN1B, SCN1A, SCN2A, GABRG2, GABRA1, and LGI1) and numerous loci for febrile seizures and epilepsies. To date, all genes with the exception of LGII, encode neuronal ion channel or neurotransmitter receptor subunits. Molecular approaches have revealed great genetic heterogeneity, with most genes remaining to be identified. One of the major challenges is now to understand phenotype-genotype correlations. This review focuses on the current knowledge on the molecular basis of these rare mendelian autosomal dominant forms of idiopathic epilepsies.

引用

页码：911 / +

页数：20

共 121 条

[31] A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes [J].