Literature DB >> 10742094

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

A Escayg1, 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.   

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Year:  2000        PMID： 10742094     DOI： 10.1038/74159

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  251 in total

1.  Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

Authors:  R H Wallace; I E Scheffer; S Barnett; M Richards; L Dibbens; R R Desai; T Lerman-Sagie; D Lev; A Mazarib; N Brand; B Ben-Zeev; I Goikhman; R Singh; G Kremmidiotis; A Gardner; G R Sutherland; A L George; J C Mulley; S F Berkovic
Journal:  Am J Hum Genet       Date:  2001-03-13       Impact factor: 11.025

Review 2.  Ion channels and neurology.

Authors:  S M Zuberi; M G Hanna
Journal:  Arch Dis Child       Date:  2001-03       Impact factor: 3.791

3.  Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.

Authors:  J Spampanato; A Escayg; M H Meisler; A L Goldin
Journal:  J Neurosci       Date:  2001-10-01       Impact factor: 6.167

Review 4.  Unraveling monogenic channelopathies and their implications for complex polygenic disease.

Authors:  J Jay Gargus
Journal:  Am J Hum Genet       Date:  2003-03-07       Impact factor: 11.025

5.  Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

Authors:  Julian Schubert; Aleksandra Siekierska; Mélanie Langlois; Patrick May; Clément Huneau; Felicitas Becker; Hiltrud Muhle; Arvid Suls; Johannes R Lemke; Carolien G F de Kovel; Holger Thiele; Kathryn Konrad; Amit Kawalia; Mohammad R Toliat; Thomas Sander; Franz Rüschendorf; Almuth Caliebe; Inga Nagel; Bernard Kohl; Angela Kecskés; Maxime Jacmin; Katia Hardies; Sarah Weckhuysen; Erik Riesch; Thomas Dorn; Eva H Brilstra; Stephanie Baulac; Rikke S Møller; Helle Hjalgrim; Bobby P C Koeleman; Karin Jurkat-Rott; Frank Lehman-Horn; Jared C Roach; Gustavo Glusman; Leroy Hood; David J Galas; Benoit Martin; Peter A M de Witte; Saskia Biskup; Peter De Jonghe; Ingo Helbig; Rudi Balling; Peter Nürnberg; Alexander D Crawford; Camila V Esguerra; Yvonne G Weber; Holger Lerche
Journal:  Nat Genet       Date:  2014-11-02       Impact factor: 38.330

6.  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

Review 7.  Febrile seizures: mechanisms and relationship to epilepsy.

Authors:  Céline M Dubé; Amy L Brewster; Tallie Z Baram
Journal:  Brain Dev       Date:  2009-02-15       Impact factor: 1.961

8.  Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy.

Authors:  John C Oakley; Franck Kalume; Frank H Yu; Todd Scheuer; William A Catterall
Journal:  Proc Natl Acad Sci U S A       Date:  2009-02-20       Impact factor: 11.205

9.  Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

Authors:  Clement Y Chow; Yanling Zhang; James J Dowling; Natsuko Jin; Maja Adamska; Kensuke Shiga; Kinga Szigeti; Michael E Shy; Jun Li; Xuebao Zhang; James R Lupski; Lois S Weisman; Miriam H Meisler
Journal:  Nature       Date:  2007-06-17       Impact factor: 49.962

10.  Transcription of the human sodium channel SCN1A gene is repressed by a scaffolding protein RACK1.

Authors:  Zhao-Fei Dong; Ling-Jia Tang; Guang-Fei Deng; Tao Zeng; Shu-Jing Liu; Rui-Ping Wan; Ting Liu; Qi-Hua Zhao; Yong-Hong Yi; Wei-Ping Liao; Yue-Sheng Long
Journal:  Mol Neurobiol       Date:  2014-01-17       Impact factor: 5.590
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