Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2016 May;30(5):28.
doi: 10.15844/pedneurbriefs-30-5-1.

Phenotypes of Dravet Syndrome

Rebecca Garcia-Sosa  1 , Linda C Laux  1
Affiliations
Comment

Phenotypes of Dravet Syndrome

Rebecca Garcia-Sosa et al. Pediatr Neurol Briefs. 2016 May.

Abstract

Researchers from the University of Washington in Seattle studied selective heterozygous and homozygous deletions of the voltage gated sodium channel (Nav1.1) in parvalbumin (PV) or somato-statin (SST) expressing interneurons.

Keywords: Behavior; Dravet syndrome; Epilepsy; Sodium channels.

PubMed Disclaimer

Comment on

References

    1. Rubinstein M, Han S, Tai C, Westenbroek RE, Hunker A, Scheuer T, et al. Dissecting the phenotypes of Dravet syndrome by gene deletion. Brain. 2015 Aug;138(Pt 8):2219–33. doi: 10.1093/brain/awv142. - DOI - PMC - PubMed
    1. Wu YW, Sullivan J, McDaniel SS, Meisler MH, Walsh EM, Li SX, et al. Incidence of Dravet Syndrome in a US Population. Pediatrics. 2015 Nov;136(5):e1310–5. doi: 10.1542/peds.2015-1807. - DOI - PMC - PubMed
    1. Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res. 2006 Aug;70(Suppl 1):S223–30. doi: 10.1016/j.eplepsyres.2006.01.019. - DOI - PubMed
    1. Meisler MH, O’Brien JE, Sharkey LM. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol. 2010 Jun;588(Pt 11):1841–8. doi: 10.1113/jphysiol.2010.188482. - DOI - PMC - PubMed
    1. Battaglia D, Ricci D, Chieffo D, Guzzetta F. Outlining a core neuropsychological phenotype for Dravet syndrome. Epilepsy Res. 2016 Feb;120:91–7. doi: 10.1016/j.eplepsyres.2015.11.020. - DOI - PubMed

LinkOut - more resources