Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/43335
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Type: Journal article
Title: The spectrum of SCNIA-related infantile epileptic encephalopathies
Author: Harkin, L.
McMahon, J.
Iona, X.
Dibbens, L.
Pelekanos, J.
Zuberi, S.
Sadleir, L.
Andermann, E.
Gill, D.
Farrell, K.
Connolly, M.
Stanley, T.
Harbord, M.
Andermann, F.
Wang, J.
Batish, S.
Jones, J.
Seltzer, W.
Gardner, A.
Sutherland, G.
et al.
Citation: Brain, 2007; 130(3):843-852
Publisher: Oxford Univ Press
Issue Date: 2007
ISSN: 0006-8950
1460-2156
Organisation: The Infantile Epileptic Encephalopathy Referral Consortium
Statement of
Responsibility: 
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, The Infantile Epileptic Encephalopathy Referral Consortium, Grant Sutherland, Samuel F. Berkovic, John C. Mulley, and Ingrid E. Scheffer
Abstract: The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by denaturing high performance liquid chromatography and sequencing. All patients had seizure onset within the first 2 years of life. A higher proportion of mutations were identified in patients with SMEI (52/66; 79%) compared to patients with SMEB (25/36; 69%). By studying a broader spectrum of infantile epileptic encephalopathies, we identified mutations in other syndromes including cryptogenic generalized epilepsy (24%) and cryptogenic focal epilepsy (22%). Within the latter group, a distinctive subgroup designated as severe infantile multifocal epilepsy had SCN1A mutations in three of five cases. This phenotype is characterized by early onset multifocal seizures and later cognitive decline. Knowledge of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders.
Keywords: SCN1A; SMEI; SMEB; epileptic encephalopathy; channelopathies
Rights: © The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
RMID: 0020070444
DOI: 10.1093/brain/awm002
Appears in Collections:Paediatrics publications

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