Literature DB >> 12919402

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.

Grazia Annesi1, Antonio Gambardella, Sara Carrideo, Gemma Incorpora, Angelo Labate, Angela Aurora Pasqua, Donatella Civitelli, Agata Polizzi, Ferdinanda Annesi, Patrizia Spadafora, Patrizia Tarantino, Innocenza C Cirò Candiano, Nelide Romeo, Elvira Valeria De Marco, Patrizia Ventura, Emilio LePiane, Mario Zappia, Umberto Aguglia, Lorenzo Pavone, Aldo Quattrone.   

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Year:  2003        PMID： 12919402     DOI： 10.1046/j.1528-1157.2003.22503.x

Source DB:  PubMed          Journal:  Epilepsia        ISSN： 0013-9580            Impact factor:   5.864


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  6 in total

Review 1.  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

2.  Regulation of persistent Na current by interactions between beta subunits of voltage-gated Na channels.

Authors:  Teresa K Aman; Tina M Grieco-Calub; Chunling Chen; Raffaella Rusconi; Emily A Slat; Lori L Isom; Indira M Raman
Journal:  J Neurosci       Date:  2009-02-18       Impact factor: 6.167

3.  Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.

Authors:  Agata Polizzi; Gemma Incorpora; Piero Pavone; Martino Ruggieri; Grazia Annesi; Antonio Gambardella; Lorenzo Pavone; Aldo Quattrone
Journal:  Childs Nerv Syst       Date:  2011-10-20       Impact factor: 1.475

4.  Traffic jam at the sodium channel.

Authors:  Carl E Stafstrom
Journal:  Epilepsy Curr       Date:  2008 May-Jun       Impact factor: 7.500

5.  A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation.

Authors:  Bin Tang; Karoni Dutt; Ligia Papale; Raffaella Rusconi; Anupama Shankar; Jessica Hunter; Sergio Tufik; Frank H Yu; William A Catterall; Massimo Mantegazza; Alan L Goldin; Andrew Escayg
Journal:  Neurobiol Dis       Date:  2009-05-03       Impact factor: 5.996

6.  An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.

Authors:  Arthur J Barela; Salina P Waddy; Jay G Lickfett; Jessica Hunter; Aimee Anido; Sandra L Helmers; Alan L Goldin; Andrew Escayg
Journal:  J Neurosci       Date:  2006-03-08       Impact factor: 6.167
  6 in total

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