title: [Genetics of idiopathic epilepsies].
abstract: Idiopathic epilepsies are genetically determined. They are characterized by the observed seizure types, an age-dependent onset, electroencephalographic criteria and concomitant symptoms, such as movement disorders or developmental delay. The main subtypes are the idiopathic (i) generalized, (ii) the focal epilepsies including the benign syndromes of early childhood and (iii) the epileptic encephalopathies as well as the fever-associated syndromes. In recent years, an increasing number of mutations have been identified in genes encoding ion channels, proteins associated to the vesical synaptic cycle or proteins involved in energy metabolism. These mechanisms are pathophysiologically plausible as they influence neuronal excitability. The large number of genetic defects in epilepsy complicates the genetic diagnostic analysis but novel genetic methods are available covering all known genes at a reasonable price. The proof of a genetic defect leads to a definitive diagnosis, is important for the prognostic and genetic counselling and may influence therapeutic decisions in some cases, so that genetic diagnostic testing is becoming increasingly more important and meaningful in many cases in daily clinical practice.
authors: Abteilung Neurologie mit Schwerpunkt Epileptologie, Hertie-Institut für Klinische Hirnforschung, Universität Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Deutschland. yvonne.weber@uni-tuebingen.de
authors: Y G
authors: YG
authors: Weber
authors: H
authors: H
authors: Lerche
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000235:genetics; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D065768:Lennox Gastaut Syndrome; D009069:Movement Disorders / Q000175:diagnosis / Q000235:genetics; D011379:Prognosis; D003294:Seizures, Febrile / Q000175:diagnosis / Q000235:genetics; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome
references: Expert Opin Pharmacother. 2012 Aug;13(12):1807-16
references: 22783830
references: Epilepsia. 2001 Apr;42(4):464-75
references: 11440341
references: Brain. 2010 May;133(Pt 5):1403-14
references: 20371507
references: J Clin Invest. 2008 Jun;118(6):2157-68
references: 18451999
references: Nat Med. 2009 Oct;15(10):1208-14
references: 19701204
references: Am J Hum Genet. 2001 Jun;68(6):1327-32
references: 11359211
references: Neurology. 2001 May 8;56(9):1245-6
references: 11342703
references: Hum Mol Genet. 2012 Dec 15;21(24):5359-72
references: 22949513
references: Lancet. 2002 Sep 14;360(9336):851-2
references: 12243921
references: Epilepsia. 1998 May;39(5):508-12
references: 9596203
references: Ann Neurol. 2009 Sep;66(3):415-9
references: 19798636
references: Hum Mutat. 2009 Mar;30(3):397-405
references: 19191339
references: Neurology. 2012 Feb 21;78(8):557-62
references: 22282645
references: Neurology. 2008 Aug 19;71(8):567-71
references: 18711109
references: Curr Pharm Des. 2005;11(21):2737-52
references: 16101452
references: Hum Mutat. 2012 Oct;33(10):1439-43
references: 22623405
references: Nat Genet. 2009 Feb;41(2):160-2
references: 19136953
references: Health Technol Assess. 2007 Oct;11(37):iii-iv, ix-x, 1-134
references: 17903391
references: Nat Genet. 1995 Oct;11(2):201-3
references: 7550350
references: Dev Med Child Neurol. 2008 Sep;50(9):648-54
references: 18754913
references: Ann Neurol. 2007 Dec;62(6):560-8
references: 17696120
references: Epilepsia. 2008 Mar;49(3):516-20
references: 17900292
references: Am J Hum Genet. 2006 Aug;79(2):342-50
references: 16826524
references: Cell. 2011 Jun 24;145(7):1036-48
references: 21703448
references: Epilepsia. 2012 Aug;53(8):1387-98
references: 22612257
references: Ann Neurol. 2012 Jan;71(1):15-25
references: 22275249
references: Brain. 2010 Jan;133(Pt 1):23-32
references: 19843651
references: Nat Genet. 2004 Aug;36(8):842-9
references: 15258581
references: Nat Genet. 2011 Nov 20;43(12):1252-5
references: 22101681