Literature DB >> 8796880

The genetics of idiopathic generalized epilepsy: implications for the understanding of its aetiology.

T Sander1.   

Abstract

Epilepsy is one of the most common neurological disorders. Both inherited and acquired factors contribute to its multifactorial pathogenesis. A genetic predisposition plays a major role in the aetiology of the common idiopathic generalized epilepsies. Susceptibility genes for two syndromes of idiopathic generalized epilepsies, the benign familial neonatal convulsions and juvenile myoclonic epilepsy, have been assigned to the chromosomal regions 20q13 (EBN1), 8q24 (EBN2) and 6p21 (EJM1). Positional cloning of the mutations causing these traits will help to elucidate the molecular pathways of epileptogenesis and will imply a classification on a neurobiological basis. Insights into the underlying impairment of neuronal excitability should provide new concepts for the development of rational treatment strategies.

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Year:  1996        PMID: 8796880     DOI: 10.1016/1357-4310(96)88793-4

Source DB:  PubMed          Journal:  Mol Med Today        ISSN: 1357-4310


  8 in total

Review 1.  Management of focal-onset seizures: an update on drug treatment.

Authors:  Svein I Johannessen; Elinor Ben-Menachem
Journal:  Drugs       Date:  2006       Impact factor: 9.546

2.  Determination of haptoglobin genotype in an Iranian population with idiopathic generalized epilepsy.

Authors:  Sukaina Al-Balaghee; Zeinab Al-Balaghee; Ashraf Shabani; Parinaz Ghadam; Mojgan Bandehpour; Ali Askari Mehr; Bahram Kazemi
Journal:  Rep Biochem Mol Biol       Date:  2015-04

3.  Convulsive disorder and genetic polymorphism. Association of idiopathic generalized epilepsy with haptoglobin polymorphism.

Authors:  P Saccucci; M Verdecchia; A Piciullo; N Bottini; R Rizzo; F Gloria-Bottini; P Lucarelli; P Curatolo
Journal:  Neurogenetics       Date:  2004-10-14       Impact factor: 2.660

4.  Genetic and phenotypic analysis of seizure susceptibility in PL/J mice.

Authors:  Toshimori Kitami; Sheila Ernest; Laura Gallaugher; Lee Friedman; Wayne N Frankel; Joseph H Nadeau
Journal:  Mamm Genome       Date:  2004-09       Impact factor: 2.957

Review 5.  Role of voltage-gated calcium channels in epilepsy.

Authors:  Gerald W Zamponi; Philippe Lory; Edward Perez-Reyes
Journal:  Pflugers Arch       Date:  2009-12-20       Impact factor: 3.657

6.  A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14.

Authors:  Ashish Kapoor; R Ratnapriya; Gigy Kuruttukulam; Anuranjan Anand
Journal:  Hum Genet       Date:  2007-04-13       Impact factor: 5.881

7.  Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.

Authors:  Veit-Simon Eckle; Aleksandr Shcheglovitov; Iuliia Vitko; Deblina Dey; Chan Choo Yap; Bettina Winckler; Edward Perez-Reyes
Journal:  J Physiol       Date:  2013-11-25       Impact factor: 6.228

Review 8.  Liquid biopsies in epilepsy: biomarkers for etiology, diagnosis, prognosis, and therapeutics.

Authors:  Jordan H Whitlock; Tabea M Soelter; Avery S Williams; Andrew A Hardigan; Brittany N Lasseigne
Journal:  Hum Cell       Date:  2021-10-25       Impact factor: 4.174

  8 in total

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