Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)

Scheffer, I. E., Wallace, R. H., Mulley, J. C. and Berkovic, S. F. (2001) Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain & Development, 23 7: 732-735. doi:10.1016/S0387-7604(01)00272-8


Author Scheffer, I. E.
Wallace, R. H.
Mulley, J. C.
Berkovic, S. F.
Title Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)
Journal name Brain & Development   Check publisher's open access policy
ISSN 0387-7604
1872-7131
Publication date 2001-01-01
Sub-type Article (original research)
DOI 10.1016/S0387-7604(01)00272-8
Open Access Status Not Open Access
Volume 23
Issue 7
Start page 732
End page 735
Total pages 4
Place of publication Amsterdam
Publisher Elsevier
Language eng
Subject 11 Medical and Health Sciences
Abstract The majority of severe epileptic encephalopathies of early childhood are symptomatic where a clear etiology is apparent. There is a small subgroup, however, where no etiology is found on imaging and metabolic studies, and genetic factors are important. Myoclonic-astatic epilepsy (MAE) and severe myoclonic epilepsy in infancy (SMEI), also known as Dravet syndrome, are epileptic encephalopathies where multiple seizure types begin in the first few years of life associated with developmental slowing. Clinical and molecular genetic studies of the families of probands with MAE and SMEI suggest a genetic basis. MAE was originally identified as part of the genetic epilepsy syndrome generalized epilepsy with febrile seizures plus (GEFS(+)). Recent clinical genetic studies suggest that SMEI forms the most severe end of the spectrum of the GEFS(+). GEF(+) has now been associated with molecular defects in three sodium channel subunit genes and a GABA subunit gene. Molecular defects of these genes have been identified in patients with MAE and SMEI. Interestingly, the molecular defects in MAE have been found in the setting of large GEFS(+) pedigrees, whereas, more severe truncation mutations arising de novo have been identified in patients with SMEI. It is likely that future molecular studies will shed light on the interaction of a number of genes, possibly related to the same or different ion channels, which result in a severe phenotype such as MAE and SMEI. (C) 2001 Elsevier Science B.V. All rights reserved.
Keyword Clinical Neurology
Genetics
Myoclonic-astatic Epilepsy
Severe Myoclonic Epilepsy In Infancy
Dravet Syndrome
Generalized Epilepsy With Febrile Seizure Plush
Sodium Channel Gene Mutation
Febrile Seizures Plus
Generalized Epilepsy
Locus
Channel
Maps
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
School of Medicine Publications
 
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Created: Mon, 13 Aug 2007, 22:42:40 EST