Literature DB >> 16059449

A plethora of SCN1A mutations: what can they tell us?

Robyn Wallace.   

Abstract

Entities:  

Year:  2005        PMID： 16059449      PMCID： PMC1176321          DOI： 10.1111/j.1535-7597.2005.05105.x

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


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  8 in total

1.  Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

Authors:  A Escayg; B T MacDonald; M H Meisler; S Baulac; G Huberfeld; I An-Gourfinkel; A Brice; E LeGuern; B Moulard; D Chaigne; C Buresi; A Malafosse
Journal:  Nat Genet       Date:  2000-04       Impact factor: 38.330

2.  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

3.  Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus.

Authors:  Jay Spampanato; Ildiko Aradi; Ivan Soltesz; Alan L Goldin
Journal:  J Neurophysiol       Date:  2003-12-31       Impact factor: 2.714

4.  Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

Authors:  Berten P G M Ceulemans; Lieve R F Claes; Lieven G Lagae
Journal:  Pediatr Neurol       Date:  2004-04       Impact factor: 3.372

5.  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

Review 6.  Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.

Authors:  K Kanai; S Hirose; H Oguni; G Fukuma; Y Shirasaka; T Miyajima; K Wada; H Iwasa; S Yasumoto; M Matsuo; M Ito; A Mitsudome; S Kaneko
Journal:  Neurology       Date:  2004-07-27       Impact factor: 9.910

7.  Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

Authors:  Christoph Lossin; Thomas H Rhodes; Reshma R Desai; Carlos G Vanoye; Dao Wang; Sanda Carniciu; Orrin Devinsky; Alfred L George
Journal:  J Neurosci       Date:  2003-12-10       Impact factor: 6.167

8.  Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

Authors:  Thomas H Rhodes; Christoph Lossin; Carlos G Vanoye; Dao W Wang; Alfred L George
Journal:  Proc Natl Acad Sci U S A       Date:  2004-07-19       Impact factor: 11.205
  8 in total
  1 in total

1.  Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Authors:  Peter Sparber; Svetlana Mikhaylova; Varvara Galkina; Yulia Itkis; Mikhail Skoblov
Journal:  Front Neurol       Date:  2021-12-06       Impact factor: 4.003
  1 in total

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