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Resource:scn1a

Name: Resource:scn1a
Description: 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
Abbreviation: SCN1A Infobase
Parent Organization: UC Davis School of Medicine; California; USA
Supporting Agency: private endeavor
Grant: none
Resource Type(s): Database, Data repository
Resource: Resource
URL: http://www.scn1a.info
Id: nlx_143761
PMID: PMID 18804930
Keywords: SCN1A, Nav1.1, variation, epilepsy, Dravet, SMEI, GEFS, Locus-specific, Mutation, Voltage-gated sodium channel, Seizure, Sodium channel, SCN1A mutation
Link to OWL / RDF: Download this content as OWL/RDF

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

Contributors

Aarnaud



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Facts about Resource:scn1aRDF feed
AbbrevSCN1A Infobase  +
AuthorsC. Lossin  +
CurationStatuscurated  +
CuratorC. Lossin  +
DefiningCitationhttp://www.scn1a.info  +
DefinitionLocus-specific database listing variants o 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.
ExampleImageSCN1A Infobase.PNG  +
GrantCategory:none   +
Has default formThis property is a special property in this wiki.Resource  +
Has roleDatabase  +, and Data repository  +
Idnlx_143761  +
Is part ofUC Davis School of Medicine; California; USA  +
JournalNumber2  +
JournalVolume31  +
KeywordsSCN1A  +, Nav1.1  +, Variation  +, Epilepsy  +, Dravet  +, SMEI  +, GEFS  +, Locus-specific  +, Mutation  +, Voltage-gated sodium channel  +, Seizure  +, Sodium channel  +, and SCN1A mutation  +
LabelResource:scn1a  +
ModifiedDate21 May 2013  +
PMID18804930  +
Page has default formThis property is a special property in this wiki.Resource  +
Pages114-130
PublicationDateFebruary 2009  +
PublicationNameBrain & Development  +
SuperCategoryResource  +
Supporting AgencyPrivate endeavor  +
SynonymThe SCN1A Infobase  +
TitleA catalog of SCN1A variants  +