Literature DB >> 9788717

New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies.

O K Steinlein1.   

Abstract

For many years, idiopathic epilepsies have been known to have a strong genetic background. In most subtypes, the mode of inheritance appears to be complex, with only some rare idiopathic epilepsies being monogenic disorders. Thus far, several gene loci have been reported for the common subtypes, such as juvenile myoclonic epilepsy, but the results of linkage studies in independent samples have often been conflicting. Recently, the gene defects underlying two monogenic epilepsies, autosomal dominant nocturnal frontal lobe epilepsy and benign familial neonatal convulsions, have been identified. Both diseases are caused by ion channel mutations, a similarity which may shed light on the understanding of the basic mechanisms of epileptogenesis.

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Year:  1998        PMID: 9788717     DOI: 10.1111/j.1399-0004.1998.tb04279.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

Authors:  B Moulard; M Guipponi; D Chaigne; D Mouthon; C Buresi; A Malafosse
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits.

Authors:  Cheng-Chun Lee; I-Ching Chou; Chang-Hai Tsai; Lei Wan; Yu-An Shu; Yuhsin Tsai; Tsai-Chung Li; Fuu-Jen Tsai
Journal:  J Clin Lab Anal       Date:  2007       Impact factor: 2.352

3.  Candidate genes for idiopathic epilepsy in four dog breeds.

Authors:  Kari J Ekenstedt; Edward E Patterson; Katie M Minor; James R Mickelson
Journal:  BMC Genet       Date:  2011-04-25       Impact factor: 2.797

4.  Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.

Authors:  Maria Virginia Soldovieri; Maria Roberta Cilio; Francesco Miceli; Giulia Bellini; Emanuele Miraglia del Giudice; Pasqualina Castaldo; Ciria C Hernandez; Mark S Shapiro; Antonio Pascotto; Lucio Annunziato; Maurizio Taglialatela
Journal:  J Neurosci       Date:  2007-05-02       Impact factor: 6.167

  4 in total

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