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Type: Journal article
Title: Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
Author: Jansen, F.
Sadleir, L.
Harkin, L.
Vadlamudi, L.
McMahon, J.
Mulley, J.
Scheffer, I.
Berkovic, S.
Citation: Neurology, 2006; 67(12):2224-2226
Publisher: Lippincott Williams & Wilkins
Issue Date: 2006
ISSN: 0028-3878
Abstract: Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous seizure types with nocturnal generalized tonic-clonic seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.
Keywords: Humans; Epilepsies, Myoclonic; Genetic Predisposition to Disease; Sodium Channels; Nerve Tissue Proteins; Diagnosis, Differential; Genetic Screening; Phenotype; Mutation; Adolescent; Adult; Middle Aged; Female; Male
Description: Copyright © 2006 American Academy of Neurology
RMID: 0020062265
DOI: 10.1212/01.wnl.0000249312.73155.7d
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Appears in Collections:Molecular and Biomedical Science publications

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