Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults

Jansen, F. E., Sadleir, L. G., Harkin, L. A., Vadlamudi, L., McMahon, J. M., Mulley, J. C., Scheffer, I. E. and Berkovic, S. F. (2006) Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults. Neurology, 67 12: 2224-2226. doi:10.1212/01.wnl.0000249312.73155.7d


Author Jansen, F. E.
Sadleir, L. G.
Harkin, L. A.
Vadlamudi, L.
McMahon, J. M.
Mulley, J. C.
Scheffer, I. E.
Berkovic, S. F.
Title Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
Journal name Neurology   Check publisher's open access policy
ISSN 0028-3878
1526-632X
Publication date 2006-12-26
Sub-type Article (original research)
DOI 10.1212/01.wnl.0000249312.73155.7d
Volume 67
Issue 12
Start page 2224
End page 2226
Total pages 3
Place of publication Philadelphia, PA, United States
Publisher Lippincott Williams & Wilkins
Language eng
Formatted 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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
ERA 2012 Admin Only
School of Medicine Publications
 
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Created: Tue, 12 Jan 2010, 22:12:33 EST by Christine Ouslinis on behalf of Faculty Of Health Sciences