Literature DB >> 18680191

Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

Erin J McArdle1, Jennifer D Kunic, Alfred L George.   

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Year:  2008        PMID： 18680191      PMCID： PMC3708306          DOI： 10.1002/ajmg.a.32448

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


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  13 in total

Review 1.  Disease-related misassembly of membrane proteins.

Authors:  Charles R Sanders; Jeffrey K Myers
Journal:  Annu Rev Biophys Biomol Struct       Date:  2004

Review 2.  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 3.  SCN1A mutations and epilepsy.

Authors:  John C Mulley; Ingrid E Scheffer; Steven Petrou; Leanne M Dibbens; Samuel F Berkovic; Louise A Harkin
Journal:  Hum Mutat       Date:  2005-06       Impact factor: 4.878

4.  Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy.

Authors:  Frank H Yu; Massimo Mantegazza; Ruth E Westenbroek; Carol A Robbins; Franck Kalume; Kimberly A Burton; William J Spain; G Stanley McKnight; Todd Scheuer; William A Catterall
Journal:  Nat Neurosci       Date:  2006-08-20       Impact factor: 24.884

5.  A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

Authors:  Kazue Kimura; Takashi Sugawara; Emi Mazaki-Miyazaki; Kyoko Hoshino; Yoshiko Nomura; Akihiko Tateno; Kei Hachimori; Kazuhiro Yamakawa; Masaya Segawa
Journal:  Brain Dev       Date:  2005-01-12       Impact factor: 1.961

6.  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

7.  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.  Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.

Authors:  Ikuo Ogiwara; Hiroyuki Miyamoto; Noriyuki Morita; Nafiseh Atapour; Emi Mazaki; Ikuyo Inoue; Tamaki Takeuchi; Shigeyoshi Itohara; Yuchio Yanagawa; Kunihiko Obata; Teiichi Furuichi; Takao K Hensch; Kazuhiro Yamakawa
Journal:  J Neurosci       Date:  2007-05-30       Impact factor: 6.167

9.  Molecular basis of an inherited epilepsy.

Authors:  Christoph Lossin; Dao W Wang; Thomas H Rhodes; Carlos G Vanoye; Alfred L George
Journal:  Neuron       Date:  2002-06-13       Impact factor: 17.173

10.  A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.

Authors:  Kazusaku Kamiya; Makoto Kaneda; Takashi Sugawara; Emi Mazaki; Nami Okamura; Mauricio Montal; Naomasa Makita; Masaki Tanaka; Katsuyuki Fukushima; Tateki Fujiwara; Yushi Inoue; Kazuhiro Yamakawa
Journal:  J Neurosci       Date:  2004-03-17       Impact factor: 6.167
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  3 in total

1.  Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.

Authors:  Claudia B Catarino; Joan Y W Liu; Ioannis Liagkouras; Vaneesha S Gibbons; Robyn W Labrum; Rachael Ellis; Cathy Woodward; Mary B Davis; Shelagh J Smith; J Helen Cross; Richard E Appleton; Simone C Yendle; Jacinta M McMahon; Susannah T Bellows; Thomas S Jacques; Sameer M Zuberi; Matthias J Koepp; Lillian Martinian; Ingrid E Scheffer; Maria Thom; Sanjay M Sisodiya
Journal:  Brain       Date:  2011-06-29       Impact factor: 13.501

2.  Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.

Authors:  Jessica L Haigh; Anna Adhikari; Nycole A Copping; Tyler Stradleigh; A Ayanna Wade; Rinaldo Catta-Preta; Linda Su-Feher; Iva Zdilar; Sarah Morse; Timothy A Fenton; Anh Nguyen; Diana Quintero; Samrawit Agezew; Michael Sramek; Ellie J Kreun; Jasmine Carter; Andrea Gompers; Jason T Lambert; Cesar P Canales; Len A Pennacchio; Axel Visel; Diane E Dickel; Jill L Silverman; Alex S Nord
Journal:  Genome Med       Date:  2021-04-26       Impact factor: 11.117

3.  Functional analysis of HECA variants identified in congenital heart disease in the Chinese population.

Authors:  Ting Li; Yao Wu; Wei-Cheng Chen; Xing Xue; Mei-Jiao Suo; Ping Li; Wei Sheng; Guo-Ying Huang
Journal:  J Clin Lab Anal       Date:  2022-08-10       Impact factor: 3.124
  3 in total

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