Recent advances in the molecular genetics of epilepsy

被引：95

作者：

Hildebrand, Michael S. ^{[1
,2
]}

Dahl, Hans-Henrik M. ^{[1
]}

Damiano, John Anthony ^{[1
]}

Smith, Richard J. H. ^{[2
]}

Scheffer, Ingrid E. ^{[3
,4
]}

Berkovic, Samuel F. ^{[1
]}

机构：

[1] Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Heidelberg, Vic 3084, Australia

[2] Univ Iowa, Dept Otolaryngol, Iowa City, IA USA

[3] Florey Neurosci Inst, Melbourne, Vic, Australia

[4] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Heidelberg, Vic 3084, Australia

来源：

JOURNAL OF MEDICAL GENETICS | 2013年 / 50卷 / 05期

基金：

英国医学研究理事会;

关键词：

SEVERE MYOCLONIC EPILEPSY; DE-NOVO MUTATIONS; COPY NUMBER VARIANTS; SODIUM-CHANNEL; SUSCEPTIBILITY LOCI; 15Q13.3; MICRODELETIONS; FEBRILE SEIZURES; SCN1A MUTATIONS; SPECTRUM; RISK;

D O I：

10.1136/jmedgenet-2012-101448

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical practice of neurologists. There has been a steady, incremental increase in understanding the genetic variation associated with epilepsies. Genetic testing in the epilepsies is not yet widely practiced, but the advent of new screening technologies promises to exponentially expand both knowledge and clinical utility. To maximise the value of this new genetic insight we need to rapidly extrapolate genetic findings to inform patients of their diagnosis, prognosis, recurrence risk and the clinical management options available for their specific genetic condition. Comprehensive, highly specific and sensitive genetic test results improve the management of patients by neurologists and clinical geneticists. Here we discuss the latest developments in clinical genetic testing for epilepsy and describe new molecular genetics platforms that will transform both genetic screening and novel gene discovery.

引用

页码：271 / 279

页数：9

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