Literature DB >> 15508916

Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.

Hirokazu Oguni1, Kitami Hayashi, Makiko Osawa, Yutaka Awaya, Yukio Fukuyama, Goryu Fukuma, Shinichi Hirose, Akihisa Mitsudome, Sunao Kaneko.   

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Year:  2005        PMID： 15508916

Source DB:  PubMed          Journal:  Adv Neurol        ISSN： 0091-3952


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  13 in total

1.  Effect of sodium channel abundance on Drosophila development, reproductive capacity and aging.

Authors:  Graham Garber; Lee Ann Smith; Robert A Reenan; Blanka Rogina
Journal:  Fly (Austin)       Date:  2012-01-01       Impact factor: 2.160

2.  When should clinicians order genetic testing for Dravet syndrome?

Authors:  Jamie K Fountain-Capal; Katherine D Holland; Donald L Gilbert; Barbara E Hallinan
Journal:  Pediatr Neurol       Date:  2011-11       Impact factor: 3.372

Review 3.  Sodium channel mutations in epilepsy and other neurological disorders.

Authors:  Miriam H Meisler; Jennifer A Kearney
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

Review 4.  Neuropsychological deficits in childhood epilepsy syndromes.

Authors:  William S MacAllister; Sarah G Schaffer
Journal:  Neuropsychol Rev       Date:  2007-10-26       Impact factor: 7.444

Review 5.  Insights into pathophysiology and therapy from a mouse model of Dravet syndrome.

Authors:  John C Oakley; Franck Kalume; William A Catterall
Journal:  Epilepsia       Date:  2011-04       Impact factor: 5.864

Review 6.  NaV1.1 channels and epilepsy.

Authors:  William A Catterall; Franck Kalume; John C Oakley
Journal:  J Physiol       Date:  2010-03-01       Impact factor: 5.182

7.  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

8.  Synergistic GABA-enhancing therapy against seizures in a mouse model of Dravet syndrome.

Authors:  John C Oakley; Alvin R Cho; Christine S Cheah; Todd Scheuer; William A Catterall
Journal:  J Pharmacol Exp Ther       Date:  2013-02-19       Impact factor: 4.030

9.  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

10.  Child Neurology: Dravet syndrome: when to suspect the diagnosis.

Authors:  John J Millichap; Sookyong Koh; Linda C Laux; Douglas R Nordli
Journal:  Neurology       Date:  2009-09-29       Impact factor: 9.910
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