Literature DB >> 18330464

Channeling into the epilepsies.

Tracey D Graves, Michael G Hanna.   

Abstract

Entities:  

Year:  2008        PMID： 18330464      PMCID： PMC2265808          DOI： 10.1111/j.1535-7511.2008.00229.x

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


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  12 in total

1.  De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Authors:  L Claes; J Del-Favero; B Ceulemans; L Lagae; C Van Broeckhoven; P De Jonghe
Journal:  Am J Hum Genet       Date:  2001-05-15       Impact factor: 11.025

2.  Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus.

Authors:  Jay Spampanato; Ildiko Aradi; Ivan Soltesz; Alan L Goldin
Journal:  J Neurophysiol       Date:  2003-12-31       Impact factor: 2.714

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.  De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

Authors:  Samuel F Berkovic; Louise Harkin; Jacinta M McMahon; James T Pelekanos; Sameer M Zuberi; Elaine C Wirrell; Deepak S Gill; Xenia Iona; John C Mulley; Ingrid E Scheffer
Journal:  Lancet Neurol       Date:  2006-06       Impact factor: 44.182

Review 5.  Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.

Authors:  K Kanai; S Hirose; H Oguni; G Fukuma; Y Shirasaka; T Miyajima; K Wada; H Iwasa; S Yasumoto; M Matsuo; M Ito; A Mitsudome; S Kaneko
Journal:  Neurology       Date:  2004-07-27       Impact factor: 9.910

6.  Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Authors:  R H Wallace; B L Hodgson; B E Grinton; R M Gardiner; R Robinson; V Rodriguez-Casero; L Sadleir; J Morgan; L A Harkin; L M Dibbens; T Yamamoto; E Andermann; J C Mulley; S F Berkovic; I E Scheffer
Journal:  Neurology       Date:  2003-09-23       Impact factor: 9.910

7.  De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Authors:  Lieve Claes; Berten Ceulemans; Dominique Audenaert; Katrien Smets; Ann Löfgren; Jurgen Del-Favero; Sirpa Ala-Mello; Lina Basel-Vanagaite; Barbara Plecko; Salmo Raskin; Paul Thiry; Nicole I Wolf; Christine Van Broeckhoven; Peter De Jonghe
Journal:  Hum Mutat       Date:  2003-06       Impact factor: 4.878

8.  Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.

Authors:  Eleonora Colosimo; Antonio Gambardella; Massimo Mantegazza; Angelo Labate; Raffaela Rusconi; Emanuele Schiavon; Ferdinanda Annesi; Rita R Cassulini; Sara Carrideo; Rosanna Chifari; Maria Paola Canevini; Raffaele Canger; Silvana Franceschetti; Grazia Annesi; Enzo Wanke; Aldo Quattrone
Journal:  Epilepsia       Date:  2007-06-12       Impact factor: 5.864

9.  Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Authors:  Carla Marini; Davide Mei; Teresa Temudo; Anna Rita Ferrari; Daniela Buti; Charlotte Dravet; Ana I Dias; Ana Moreira; Eulalia Calado; Stefano Seri; Brian Neville; Juan Narbona; Evan Reid; Roberto Michelucci; Federico Sicca; Helen J Cross; Renzo Guerrini
Journal:  Epilepsia       Date:  2007-06-11       Impact factor: 5.864

10.  The spectrum of SCN1A-related infantile epileptic encephalopathies.

Authors:  Louise A Harkin; Jacinta M McMahon; Xenia Iona; Leanne Dibbens; James T Pelekanos; Sameer M Zuberi; Lynette G Sadleir; Eva Andermann; Deepak Gill; Kevin Farrell; Mary Connolly; Thorsten Stanley; Michael Harbord; Frederick Andermann; Jing Wang; Sat Dev Batish; Jeffrey G Jones; William K Seltzer; Alison Gardner; Grant Sutherland; Samuel F Berkovic; John C Mulley; Ingrid E Scheffer
Journal:  Brain       Date:  2007-03       Impact factor: 13.501
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  2 in total

1.  Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.

Authors:  Muhammad Imran Naseer; Angham Abdulrhman Abdulkareem; Mahmood Rasool; Hussein Algahtani; Osama Yousef Muthaffar; Peter Natesan Pushparaj
Journal:  Front Pediatr       Date:  2022-06-22       Impact factor: 3.569

2.  A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.

Authors:  Pierre Coste de Bagneaux; Leonie von Elsner; Tatjana Bierhals; Marta Campiglio; Jessika Johannsen; Gerald J Obermair; Maja Hempel; Bernhard E Flucher; Kerstin Kutsche
Journal:  PLoS Genet       Date:  2020-03-16       Impact factor: 6.020
  2 in total

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