@article{8d57dadd4b1c4a2aaf987338f14ac798,
title = "The spectrum of SCN1A-related infantile epileptic encephalopathies",
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 = "Channelopathies, Epileptic encephalopathy, SCN1A, SMEB, SMEI",
author = "Harkin, {Louise A.} and McMahon, {Jacinta M.} and Xenia Iona and Leanne Dibbens and Pelekanos, {James T.} and Zuberi, {Sameer M.} and Sadleir, {Lynette G.} and Eva Andermann and Deepak Gill and Kevin Farrell and Mary Connolly and Thorsten Stanley and Michael Harbord and Frederick Andermann and Jing Wang and Batish, {Sat Dev} and Jones, {Jeffrey G.} and Seltzer, {William K.} and Alison Gardner and {The Infantile Epileptic Encephalopathy Referral Consortium} and Grant Sutherland and Berkovic, {Samuel F.} and Mulley, {John C.} and Scheffer, {Ingrid E.} and Kim Abbott and Ian Andrews and Barry Appleton and Andrew Bleasel and Neil Buchanan and Christopher Burke and Anne Bye and Carol Camfield and Peter Camfield and Gabriel Chow and Kevin Collins and Mark Cook and Cross, {J. Helen} and Yanick Crow and D'Agostino, {M. Daniela} and Martin Delatycki and Colin Dunkley and Joe Fawke and Colin Ferrie and Michael Geraghty and Gail Graham and Padraic Grattan-Smith and Elizabeth Hallam and Lorie Hamiwka and Anton Harding and Simon Harvey and Michael Hayman and Ian Hufton and Peter Humphries and Pierre Jacob and Raimond Jacquemard and David Jamison and Philip Jardine and Steve Jones and Daniel Keene and Kent Kelley and David Ketteridge and Andrew Kim and Sara Kivity and Chris Kneebone and Andrew Kornberg and Chris Lamb and Cecilie Lander and Tally Lerman-Sagie and Dorit Lev and Richard Leventer and Mark Mackay and Steven Malone and Jim Manson and Ailsa McLellan and Philip Moore and Lakshmi Nagarajan and Margot Nash and Marina Nikanorova and Doug Nordli and Mary O'Regan and Robert Ouvrier and Jayesh Patel and Clair Pridmore and Venkat Ramesh and David Reutens and Peter Rowe and Lloyd Shield and Paul Shillito and Lindsay Smith and Claire Spooner and Geoffrey Wallace and Nathan Watemberg and William Whitehouse and Elaine Wirrell",
year = "2007",
month = mar,
doi = "10.1093/brain/awm002",
language = "English",
volume = "130",
pages = "843--852",
journal = "Brain",
issn = "0006-8950",
publisher = "Oxford University Press",
number = "3",
}