Literature DB >> 21416599

An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.

Gerald Raymond1, Elizabeth Wohler, Carolyn Dinsmore, Jeanne Cox, Michael Johnston, Denise Batista, Tao Wang.   

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Year:  2011        PMID： 21416599     DOI： 10.1002/ajmg.a.33929

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

Review 1.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

2.  SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital.

Authors:  Fiona M Baumer; Jurriaan M Peters; Christelle M El Achkar; Phillip L Pearl
Journal:  J Pediatr Epilepsy       Date:  2016-03

3.  De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.

Authors:  Teresa Tavassoli; Alexander Kolevzon; A Ting Wang; Jocelyn Curchack-Lichtin; Danielle Halpern; Lily Schwartz; Sarah Soffes; Lauren Bush; David Grodberg; Guiqing Cai; Joseph D Buxbaum
Journal:  BMC Med Genet       Date:  2014-03-20       Impact factor: 2.103

Review 4.  Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies.

Authors:  Regina Trollmann
Journal:  Front Neurol       Date:  2021-02-02       Impact factor: 4.003

Review 5.  Predicting the impact of sodium channel mutations in human brain disease.

Authors:  Jeffrey L Noebels
Journal:  Epilepsia       Date:  2019-12       Impact factor: 5.864
  5 in total

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