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Genetics of childhood epilepsy
Robert Robinson, Mark Gardiner
Department of
Paediatrics, Royal Free and University College Medical School,
University College London, Rayne Institute, University Street, London
WC1E 6JJ, UK
Correspondence to: Dr Robinson email: robert.robinson@ucl.ac.uk
| The first 150 words of the full text of this article appear below. |
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Introduction |
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The epilepsies are a heterogeneous group of disorders with many causes. However, a genetic aetiology may be present in up to 40% of patients, and this proportion is even higher in epilepsy of childhood onset.1
The past decade has seen spectacular advances in our understanding of the genetics of epilepsy at a molecular level, and several comprehensive reviews are available.2 3 It is apparent that epilepsy genes fall into several quite distinct classes including those in which mutations cause abnormal brain development, progressive neurodegeneration, disturbed energy metabolism, or dysfunction of ion channels. The discovery that several idiopathic mendelian epilepsies are caused by mutations in ion channels, including voltage gated potassium and sodium channels, is the most exciting advance because this might provide a clue to the cause of the more common idiopathic familial epilepsies.
In this short review, the focus is on those mendelian childhood
epilepsies for which genes have recently
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