J Child Neurol. 2007 Feb;22(2):185-94.

Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients.

Korff C, Laux L, Kelley K, Goldstein J, Koh S, Nordli D Jr.

Source

Epilepsy Center, Children's Memorial Hospital, Chicago, Illinois 60614-3394, USA.

Abstract

To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They analyzed their clinical presentation, electroencephalographic findings, genetic (SCN1A gene) results, and treatment responses and compared the findings to previous reports. The patients presented with all the previously described characteristics of Dravet syndrome. Six of the 7 patients (86%) who were tested for SCN1A mutations had positive results. The best treatment combinations included topiramate, valproate, or the ketogenic diet. Dravet syndrome is a well-defined epileptic syndrome that needs larger recognition, particularly because commercial testing for SCN1A gene mutations is now available in the United States. Despite its reputation for seizure intractability, several treatment options may be particularly helpful, whereas others need to be avoided.

PMID:: 17621480; [PubMed - indexed for MEDLINE]

MeSH Terms, Substances

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

SCN1A Gene - Genetics Home Reference

Supplemental Content

Save items

Related citations in PubMed

Review Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. [Epilepsia. 2008]
Review Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.
Delgado-Escueta AV, Bourgeois BF. Epilepsia. 2008 Dec; 49 Suppl 9:13-24.
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. [Epileptic Disord. 2003]
Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.
Gennaro E, Veggiotti P, Malacarne M, Madia F, Cecconi M, Cardinali S, Cassetti A, Cecconi I, Bertini E, Bianchi A, et al. Epileptic Disord. 2003 Mar; 5(1):21-5.
[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases]. [Ideggyogy Sz. 2008]
[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].
Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, et al. Ideggyogy Sz. 2008 Nov 30; 61(11-12):402-8.
Severe myoclonic epilepsy in infancy: toward an optimal treatment. [J Child Neurol. 2004]
Severe myoclonic epilepsy in infancy: toward an optimal treatment.
Ceulemans B, Boel M, Claes L, Dom L, Willekens H, Thiry P, Lagae L. J Child Neurol. 2004 Jul; 19(7):516-21.
Review Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. [Epilepsy Res. 2006]
Review Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies.
Fujiwara T. Epilepsy Res. 2006 Aug; 70 Suppl 1:S223-30. Epub 2006 Jun 27.

See reviews... See all...

Cited by 6 PubMed Central articles

"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances. [Ital J Pediatr. 2011]
"Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances.
Parisi P, Verrotti A, Paolino MC, Castaldo R, Ianniello F, Ferretti A, Chiarelli F, Villa MP. Ital J Pediatr. 2011 Dec 19; 37:58. Epub 2011 Dec 19.
"Epileptic encephalopathy" of infancy and childhood: electro-clinical pictures and recent understandings. [Curr Neuropharmacol. 2010]
"Epileptic encephalopathy" of infancy and childhood: electro-clinical pictures and recent understandings.
Parisi P, Spalice A, Nicita F, Papetti L, Ursitti F, Verrotti A, Iannetti P, Villa MP. Curr Neuropharmacol. 2010 Dec; 8(4):409-21.
Early EEG improvement after ketogenic diet initiation. [Epilepsy Res. 2011]
Early EEG improvement after ketogenic diet initiation.
Kessler SK, Gallagher PR, Shellhaas RA, Clancy RR, Bergqvist AG. Epilepsy Res. 2011 Mar; 94(1-2):94-101. Epub 2011 Feb 23.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene
Gene records that cite the current articles. Citations in Gene are added manually by NCBI or imported from outside public resources.
Gene (GeneRIF)
Gene records that have the current articles as Reference into Function citations (GeneRIFs). NLM staff reviewing the literature while indexing MEDLINE add GeneRIFs manually.
HomoloGene
HomoloGene clusters of homologous genes and sequences that cite the current articles. These are references on the Gene and sequence records in the HomoloGene entry.
Nucleotide (RefSeq)
NCBI nucleotide Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
Protein (RefSeq)
NCBI protein Reference Sequences (RefSeqs) that are cited in the current articles, included in the corresponding Gene Reference into Function, or that include the PubMed articles as references.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
UniGene
UniGene clusters of expressed sequences that are associated with the current articles through references on the clustered sequence records and related Gene records.
GEO Profiles
Gene Expression Omnibus (GEO) Profiles of molecular abundance data. The current articles are references on the Gene record associated with the GEO profile.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of...
Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients.
J Child Neurol. 2007 Feb ;22(2):185-94.

PubMed
Peroxisome proliferator-activated receptor gamma is required for the inhibitory ...
Peroxisome proliferator-activated receptor gamma is required for the inhibitory effect of ciglitazone but not 15-deoxy-Delta 12,14-prostaglandin J2 on the NFkappaB pathway in human endothelial cells.
Shock. 2007 Dec ;28(6):722-726.

PubMed
Association study between alcoholism and endocannabinoid metabolic enzyme genes ...
Association study between alcoholism and endocannabinoid metabolic enzyme genes encoding fatty acid amide hydrolase and monoglyceride lipase in a Japanese population.
Psychiatr Genet. 2007 Aug ;17(4):215-20.

PubMed
Qigong for hypertension: a systematic review of randomized clinical trials.
Qigong for hypertension: a systematic review of randomized clinical trials.
J Hypertens. 2007 Aug ;25(8):1525-32.

PubMed
Neuroimaging in trauma.
Neuroimaging in trauma.
Curr Opin Neurol. 2007 Aug ;20(4):403-9.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: