Literature DB >> 15346159

SCN1A in SMEI, ICEGTC, and GEFS+: Alphabet Soup or Emerging Genotypic-Phenotypic Clarity?

Carl E. Stafstrom.   

Abstract

Entities:  

Year:  2003        PMID： 15346159      PMCID： PMC321216          DOI： 10.1046/j.1535-7597.2003.03602.x

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


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  5 in total

1.  De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Authors:  L Claes; J Del-Favero; B Ceulemans; L Lagae; C Van Broeckhoven; P De Jonghe
Journal:  Am J Hum Genet       Date:  2001-05-15       Impact factor: 11.025

2.  Severe infantile epilepsies: molecular genetics challenge clinical classification.

Authors:  Ingrid E Scheffer
Journal:  Brain       Date:  2003-03       Impact factor: 13.501

Review 3.  Voltage-gated sodium channels in epilepsy.

Authors:  Rüdiger Köhling
Journal:  Epilepsia       Date:  2002-11       Impact factor: 5.864

4.  Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

Authors:  Takashi Sugawara; Yuji Tsurubuchi; Tateki Fujiwara; Emi Mazaki-Miyazaki; Keiichi Nagata; Mauricio Montal; Yushi Inoue; Kazuhiro Yamakawa
Journal:  Epilepsy Res       Date:  2003-05       Impact factor: 3.045

5.  Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

Authors:  R Nabbout; E Gennaro; B Dalla Bernardina; O Dulac; F Madia; E Bertini; G Capovilla; C Chiron; G Cristofori; M Elia; E Fontana; R Gaggero; T Granata; R Guerrini; M Loi; L La Selva; M L Lispi; A Matricardi; A Romeo; V Tzolas; D Valseriati; P Veggiotti; F Vigevano; L Vallée; F Dagna Bricarelli; A Bianchi; F Zara
Journal:  Neurology       Date:  2003-06-24       Impact factor: 9.910
  5 in total
  1 in total

1.  Persistent sodium current and its role in epilepsy.

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

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