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https://hdl.handle.net/2440/35545
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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 1526-632X |
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 Phenotype Mutation Adolescent Adult Middle Aged Female Male Genetic Testing NAV1.1 Voltage-Gated Sodium Channel |
Description: | Copyright © 2006 American Academy of Neurology |
DOI: | 10.1212/01.wnl.0000249312.73155.7d |
Description (link): | http://www.neurology.org/cgi/content/abstract/67/12/2224 |
Published version: | http://dx.doi.org/10.1212/01.wnl.0000249312.73155.7d |
Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
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