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Nat Rev Neurol. 2012 Jan 31;8(3):129-30. doi: 10.1038/nrneurol.2012.12.

Epilepsy. Genetics of early-onset epilepsy with encephalopathy.

Author information

1
Centre de Reference Epilepsies Rares, Department of Neuropediatrics, INSERM U663, Université Paris Descartes, Hôpital Necker, 149 Rue de Sèvres, Paris, France. rimanabbout@yahoo.com

Abstract

Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?

PMID:
22290576
DOI:
10.1038/nrneurol.2012.12
[Indexed for MEDLINE]

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