Literature DB >> 19949041

Lack of replication of association between scn1a SNP and febrile seizures.

S Petrovski1, I E Scheffer, S M Sisodiya, T J O'Brien, S F Berkovic.   

Abstract

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Year:  2009        PMID： 19949041      PMCID： PMC2881860          DOI： 10.1212/WNL.0b013e3181c3fd6f

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  Association of genetic loci: replication or not, that is the question.

Authors:  Jurg Ott
Journal:  Neurology       Date:  2004-09-28       Impact factor: 9.910

2.  A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.

Authors:  K Schlachter; U Gruber-Sedlmayr; E Stogmann; M Lausecker; C Hotzy; J Balzar; E Schuh; C Baumgartner; J C Mueller; T Illig; H E Wichmann; P Lichtner; T Meitinger; T M Strom; A Zimprich; F Zimprich
Journal:  Neurology       Date:  2009-03-17       Impact factor: 9.910

Review 3.  Navigating the channels and beyond: unravelling the genetics of the epilepsies.

Authors:  Ingo Helbig; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
Journal:  Lancet Neurol       Date:  2008-03       Impact factor: 44.182

4.  Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.

Authors:  Gianpiero L Cavalleri; Michael E Weale; Kevin V Shianna; Rinki Singh; John M Lynch; Bronwyn Grinton; Cassandra Szoeke; Kevin Murphy; Peter Kinirons; Deirdre O'Rourke; Dongliang Ge; Chantal Depondt; Kristl G Claeys; Massimo Pandolfo; Curtis Gumbs; Nicole Walley; James McNamara; John C Mulley; Kristen N Linney; Leslie J Sheffield; Rodney A Radtke; Sarah K Tate; Stephanie L Chissoe; Rachel A Gibson; David Hosford; Alice Stanton; Tracey D Graves; Michael G Hanna; Kai Eriksson; Anne-Mari Kantanen; Reetta Kalviainen; Terence J O'Brien; Josemir W Sander; John S Duncan; Ingrid E Scheffer; Samuel F Berkovic; Nicholas W Wood; Colin P Doherty; Norman Delanty; Sanjay M Sisodiya; David B Goldstein
Journal:  Lancet Neurol       Date:  2007-11       Impact factor: 44.182

Review 5.  Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

Authors:  Ingrid E Scheffer; Yue-Hua Zhang; Floor E Jansen; Leanne Dibbens
Journal:  Brain Dev       Date:  2009-02-08       Impact factor: 1.961

6.  Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

Authors:  Erin L Heinzen; Woohyun Yoon; Sarah K Tate; Arjune Sen; Nicholas W Wood; Sanjay M Sisodiya; David B Goldstein
Journal:  Am J Hum Genet       Date:  2007-04-03       Impact factor: 11.025

7.  Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.

Authors:  Massimo Mantegazza; Antonio Gambardella; Raffaella Rusconi; Emanuele Schiavon; Ferdinanda Annesi; Rita Restano Cassulini; Angelo Labate; Sara Carrideo; Rosanna Chifari; Maria Paola Canevini; Raffaele Canger; Silvana Franceschetti; Grazia Annesi; Enzo Wanke; Aldo Quattrone
Journal:  Proc Natl Acad Sci U S A       Date:  2005-12-02       Impact factor: 11.205
  7 in total
  5 in total

1.  Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.

Authors:  Larry Baum; Batoul Sadat Haerian; Ho-Keung Ng; Virginia C N Wong; Ping Wing Ng; Colin H T Lui; Ngai Chuen Sin; Chunbo Zhang; Brian Tomlinson; Gary Wing-Kin Wong; Hui Jan Tan; Azman Ali Raymond; Zahurin Mohamed; Patrick Kwan
Journal:  Hum Genet       Date:  2013-12-13       Impact factor: 4.132

Review 2.  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

3.  Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker.

Authors:  Emily V Fletcher; Dimitri M Kullmann; Stephanie Schorge
Journal:  J Biol Chem       Date:  2011-09-02       Impact factor: 5.157

4.  Alternative Splicing of the SLCO1B1 Gene: An Exploratory Analysis of Isoform Diversity in Pediatric Liver.

Authors:  Bianca D van Groen; Chengpeng Bi; Roger Gaedigk; Vincent S Staggs; Dick Tibboel; Saskia N de Wildt; J Steven Leeder
Journal:  Clin Transl Sci       Date:  2020-01-09       Impact factor: 4.689

5.  Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Authors:  Dalia Kasperaviciute; Claudia B Catarino; Mar Matarin; Costin Leu; Jan Novy; Anna Tostevin; Bárbara Leal; Ellen V S Hessel; Kerstin Hallmann; Michael S Hildebrand; Hans-Henrik M Dahl; Mina Ryten; Daniah Trabzuni; Adaikalavan Ramasamy; Saud Alhusaini; Colin P Doherty; Thomas Dorn; Jörg Hansen; Günter Krämer; Bernhard J Steinhoff; Dominik Zumsteg; Susan Duncan; Reetta K Kälviäinen; Kai J Eriksson; Anne-Mari Kantanen; Massimo Pandolfo; Ursula Gruber-Sedlmayr; Kurt Schlachter; Eva M Reinthaler; Elisabeth Stogmann; Fritz Zimprich; Emilie Théâtre; Colin Smith; Terence J O'Brien; K Meng Tan; Slave Petrovski; Angela Robbiano; Roberta Paravidino; Federico Zara; Pasquale Striano; Michael R Sperling; Russell J Buono; Hakon Hakonarson; João Chaves; Paulo P Costa; Berta M Silva; António M da Silva; Pierre N E de Graan; Bobby P C Koeleman; Albert Becker; Susanne Schoch; Marec von Lehe; Philipp S Reif; Felix Rosenow; Felicitas Becker; Yvonne Weber; Holger Lerche; Karl Rössler; Michael Buchfelder; Hajo M Hamer; Katja Kobow; Roland Coras; Ingmar Blumcke; Ingrid E Scheffer; Samuel F Berkovic; Michael E Weale; Norman Delanty; Chantal Depondt; Gianpiero L Cavalleri; Wolfram S Kunz; Sanjay M Sisodiya
Journal:  Brain       Date:  2013-09-06       Impact factor: 13.501
  5 in total

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