SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis-Reference-Cited by-同舟云学术

SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

Published:2009-07 Issue:7 Volume:50 Page:1670-1678
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:

Author:

Marini Carla,Scheffer Ingrid E.,Nabbout Rima,Mei Davide,Cox Kathy,Dibbens Leanne M.,McMahon Jacinta M.,Iona Xenia,Carpintero Rochio Sanchez,Elia Maurizio,Cilio Maria Roberta,Specchio Nicola,Giordano Lucio,Striano Pasquale,Gennaro Elena,Cross J. Helen,Kivity Sara,Neufeld Miriam Y.,Afawi Zaid,Andermann Eva,Keene Daniel,Dulac Olivier,Zara Federico,Berkovic Samuel F.,Guerrini Renzo,Mulley John C.

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2009.02013.x/fullpdf

Reference28 articles.

1. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy;Claes;Am J Hum Genet,2001

2. An SCN9A channelopathy causes congenital inability to experience pain;Cox;Nature,2006

3. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy;Depienne;Hum Mutat,2006

4. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology;Engel;Epilepsia,2001

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