Literature DB >> 25346629

Genotype & Phenotype of Ohtahara Syndrome-What's SCN2A Got to Do With It? A Clinician's Read.

Jeffrey Buchhalter.   

Abstract

Entities:  

Year:  2014        PMID: 25346629      PMCID: PMC4189632          DOI: 10.5698/1535-7597-14.5.253

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


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  11 in total

1.  Genetic testing in epilepsy: what should you be doing?

Authors:  Ingrid E Scheffer
Journal:  Epilepsy Curr       Date:  2011-07       Impact factor: 7.500

2.  Who's afraid of peer review?

Authors:  John Bohannon
Journal:  Science       Date:  2013-10-04       Impact factor: 47.728

3.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Authors:  Stephan J Sanders; Michael T Murtha; Abha R Gupta; John D Murdoch; Melanie J Raubeson; A Jeremy Willsey; A Gulhan Ercan-Sencicek; Nicholas M DiLullo; Neelroop N Parikshak; Jason L Stein; Michael F Walker; Gordon T Ober; Nicole A Teran; Youeun Song; Paul El-Fishawy; Ryan C Murtha; Murim Choi; John D Overton; Robert D Bjornson; Nicholas J Carriero; Kyle A Meyer; Kaya Bilguvar; Shrikant M Mane; Nenad Sestan; Richard P Lifton; Murat Günel; Kathryn Roeder; Daniel H Geschwind; Bernie Devlin; Matthew W State
Journal:  Nature       Date:  2012-04-04       Impact factor: 49.962

4.  SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

Authors:  Y Liao; A-K Anttonen; E Liukkonen; E Gaily; S Maljevic; S Schubert; A Bellan-Koch; S Petrou; V E Ahonen; H Lerche; A-E Lehesjoki
Journal:  Neurology       Date:  2010-10-19       Impact factor: 9.910

5.  Sodium-channel defects in benign familial neonatal-infantile seizures.

Authors:  Sarah E Heron; Kathryn M Crossland; Eva Andermann; Hilary A Phillips; Allison J Hall; Andrew Bleasel; Michael Shevell; Suha Mercho; Marie-Helene Seni; Marie-Christine Guiot; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Journal:  Lancet       Date:  2002-09-14       Impact factor: 79.321

6.  Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

Authors:  Xiuyu Shi; Sawa Yasumoto; Eiji Nakagawa; Tatsuya Fukasawa; Satoshi Uchiya; Shinichi Hirose
Journal:  Brain Dev       Date:  2009-09-23       Impact factor: 1.961

7.  De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

Authors:  I Ogiwara; K Ito; Y Sawaishi; H Osaka; E Mazaki; I Inoue; M Montal; T Hashikawa; T Shike; T Fujiwara; Y Inoue; M Kaneda; K Yamakawa
Journal:  Neurology       Date:  2009-09-29       Impact factor: 9.910

8.  Seizure phenotypes of a family with missense mutations in SCN2A.

Authors:  Masatoshi Ito; Yukiyoshi Shirasaka; Shinichi Hirose; Takashi Sugawara; Kazuhiro Yamakawa
Journal:  Pediatr Neurol       Date:  2004-08       Impact factor: 3.372

9.  Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Authors:  Kazuyuki Nakamura; Mitsuhiro Kato; Hitoshi Osaka; Sumimasa Yamashita; Eiji Nakagawa; Kazuhiro Haginoya; Jun Tohyama; Mitsuko Okuda; Takahito Wada; Shuichi Shimakawa; Katsumi Imai; Saoko Takeshita; Hisako Ishiwata; Dorit Lev; Tally Lerman-Sagie; David E Cervantes-Barragán; Camilo E Villarroel; Masaharu Ohfu; Karin Writzl; Barbara Gnidovec Strazisar; Shinichi Hirabayashi; David Chitayat; Diane Myles Reid; Kiyomi Nishiyama; Hirofumi Kodera; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Kiyoshi Hayasaka; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Neurology       Date:  2013-08-09       Impact factor: 9.910

10.  Genetic testing in the epilepsies--report of the ILAE Genetics Commission.

Authors:  Ruth Ottman; Shinichi Hirose; Satish Jain; Holger Lerche; Iscia Lopes-Cendes; Jeffrey L Noebels; José Serratosa; Federico Zara; Ingrid E Scheffer
Journal:  Epilepsia       Date:  2010-01-19       Impact factor: 5.864

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