Literature DB >> 15618878

Epilepsy and sodium channel gene mutations: gain or loss of function?

Kazuhiro Yamakawa1.   

Abstract

Mutations in voltage-gated sodium channel genes (SCN1A, SCN2A, SCN1B) have been reported to be responsible for some epilepsies. Although studying such mutations to elucidate the disease mechanisms would be indispensable for the development of effective therapies, the functional consequences of these mutations remain controversial. Here, I propose a novel hypothesis for an epileptic disease mechanism which could drive the design of further studies to understand the molecular pathology of these diseases.

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Year:  2005        PMID: 15618878     DOI: 10.1097/00001756-200501190-00001

Source DB:  PubMed          Journal:  Neuroreport        ISSN: 0959-4965            Impact factor:   1.837


  8 in total

Review 1.  Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.

Authors:  Miriam H Meisler; Janelle E O'Brien; Lisa M Sharkey
Journal:  J Physiol       Date:  2010-03-29       Impact factor: 5.182

2.  Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

Authors:  Thomas H Rhodes; Carlos G Vanoye; Iori Ohmori; Ikuo Ogiwara; Kazuhiro Yamakawa; Alfred L George
Journal:  J Physiol       Date:  2005-10-06       Impact factor: 5.182

3.  Persistent sodium current and its role in epilepsy.

Authors:  Carl E Stafstrom
Journal:  Epilepsy Curr       Date:  2007 Jan-Feb       Impact factor: 7.500

4.  A functional null mutation of SCN1B in a patient with Dravet syndrome.

Authors:  Gustavo A Patino; Lieve R F Claes; Luis F Lopez-Santiago; Emily A Slat; Raja S R Dondeti; Chunling Chen; Heather A O'Malley; Charles B B Gray; Haruko Miyazaki; Nobuyuki Nukina; Fumitaka Oyama; Peter De Jonghe; Lori L Isom
Journal:  J Neurosci       Date:  2009-08-26       Impact factor: 6.167

5.  Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.

Authors:  Ikuo Ogiwara; Hiroyuki Miyamoto; Noriyuki Morita; Nafiseh Atapour; Emi Mazaki; Ikuyo Inoue; Tamaki Takeuchi; Shigeyoshi Itohara; Yuchio Yanagawa; Kunihiko Obata; Teiichi Furuichi; Takao K Hensch; Kazuhiro Yamakawa
Journal:  J Neurosci       Date:  2007-05-30       Impact factor: 6.167

Review 6.  The molecular biology of genetic-based epilepsies.

Authors:  Hao Deng; Xiaofei Xiu; Zhi Song
Journal:  Mol Neurobiol       Date:  2013-08-10       Impact factor: 5.590

7.  Na Channel β Subunits: Overachievers of the Ion Channel Family.

Authors:  William J Brackenbury; Lori L Isom
Journal:  Front Pharmacol       Date:  2011-09-28       Impact factor: 5.810

8.  The Sodium Channel B4-Subunits are Dysregulated in Temporal Lobe Epilepsy Drug-Resistant Patients.

Authors:  Mariam A Sheilabi; Louise Y Takeshita; Edward J Sims; Francesco Falciani; Alessandra P Princivalle
Journal:  Int J Mol Sci       Date:  2020-04-22       Impact factor: 5.923

  8 in total

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