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Resource:scn1a

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Name:	Resource:scn1a
Description:	The SCN1A Infobase is a locus-specific database listing variants of the SCN1A gene. To provide a continued platform that is in keeping with the latest data, this web site has been set up where all information can be accessed and downloaded. A Mutation submission form encourages data submissions. Over the past ten years, mutations in voltage-gated sodium channels (Navs) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Nav1.1 (gene symbol SCN1A), appears to be a superculprit, with virtually hundreds of mutations. The associated phenotypes range from benign febrile seizures to extremely serious conditions like Dravet syndrome (a.k.a. severe myoclonic epilepsy in infancy or SMEI). Despite the wealth of information, mutational analyses are cumbersome, owing to inconsistencies among the Nav1.1 sequences to which different research groups refer. Splicing variability is the core problem: Nav1.1 exists in the brain in 3 different isoforms: full-length (2009 AA) as well as two shorter versions that lack 11 or 28 amino acids compared to the former. This online database – SCN1A infobase – establishes a standardized nomenclature for Nav1.1 variants so as to provide a platform from which future mutation analyses can be started without up-front data normalization.[1]
Other Name(s):	The SCN1A Infobase
Parent Organization:	UC Davis School of Medicine; California; USA
Supporting Agency:	private endeavor
Resource Type(s):	Database, Data storage repository
Keywords:	SCN1A, Nav1.1, variation, epilepsy, Dravet, SMEI, GEFS, Locus-specific, Mutation, Voltage-gated sodium channel, Seizure, Sodium channel, SCN1A mutation
Grant:	none
Abbreviation:	SCN1A Infobase
Resource:	Resource
URL:	http://www.scn1a.info
PMID:	PMID 18804930
Id:	nlx_143761
Link to OWL / RDF:	Download this content as OWL/RDF

Title:	A catalog of SCN1A variants
Author(s):	C. Lossin
Publication date:	February 2009
Journal:	Brain & Development
Volume:	31
Issue:	2
Page(s):	114-130

Last modified date:	2011-11-22
Version number:	161501
Example image:
Curation status	curated
Curator(s):	C. Lossin

Curation status: Curated

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References

1. ↑ Lossin C (2009) A catalog of SCN1A variants. Brain Dev 31: 114-30 PubMed

Notes

This page uses this default form:Resource

Old url: http://web.scn1a.info

Facts about Resource:scn1aRDF feed

Abbrev	SCN1A Infobase  +
Authors	C. Lossin  +
CurationStatus	curated  +
Curator	C. Lossin  +
DefiningCitation	http://www.scn1a.info  +
Definition	The SCN1A Infobase is a locus-specific dat … The SCN1A Infobase is a locus-specific database listing variants of the SCN1A gene. To provide a continued platform that is in keeping with the latest data, this web site has been set up where all information can be accessed and downloaded. A Mutation submission form encourages data submissions. Over the past ten years, mutations in voltage-gated sodium channels (Navs) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Nav1.1 (gene symbol SCN1A), appears to be a superculprit, with virtually hundreds of mutations. The associated phenotypes range from benign febrile seizures to extremely serious conditions like Dravet syndrome (a.k.a. severe myoclonic epilepsy in infancy or SMEI). Despite the wealth of information, mutational analyses are cumbersome, owing to inconsistencies among the Nav1.1 sequences to which different research groups refer. Splicing variability is the core problem: Nav1.1 exists in the brain in 3 different isoforms: full-length (2009 AA) as well as two shorter versions that lack 11 or 28 amino acids compared to the former. This online database – SCN1A infobase – establishes a standardized nomenclature for Nav1.1 variants so as to provide a platform from which future mutation analyses can be started without up-front data normalization. arted without up-front data normalization.
ExampleImage	+
Grant	Category:none   +
Has default formThis property is a special property in this wiki.	Resource  +
Has role	Database  +, and Data storage repository  +
Id	nlx_143761  +
Is part of	UC Davis School of Medicine; California; USA  +
JournalNumber	2  +
JournalVolume	31  +
Keywords	SCN1A  +, Nav1.1  +, Variation  +, Epilepsy  +, Dravet  +, SMEI  +, GEFS  +, Locus-specific  +, Mutation  +, Voltage-gated sodium channel  +, Seizure  +, Sodium channel  +, and SCN1A mutation  +
Label	Resource:scn1a  +
ModifiedDate	22 November 2011  +
PMID	18804930  +
Page has default formThis property is a special property in this wiki.	Resource  +
Pages	114-130
PublicationDate	February 2009  +
PublicationName	Brain & Development  +
SuperCategory	Resource  +
Supporting Agency	Private endeavor  +
Synonym	The SCN1A Infobase  +
Title	A catalog of SCN1A variants  +