Linked Life Data

19469841

Source:http://linkedlifedata.com/resource/pubmed/id/19469841

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2009-5-27
pubmed:abstractText
Mutations in the NaV1.1 neuronal sodium channel alpha-subunit (SCN1A) gene have been documented in a spectrum of epilepsy syndromes, ranging from the relatively benign generalized epilepsy with febrile seizures plus (GEFS(+)) to severe myoclonic epilepsy in infancy (SMEI), and rare cases of familial migraine. More than 300 new mutations have been identified to date, with missense mutations being the most common in GEFS(+) and more deleterious mutations (nonsense, frameshift) representing the majority of SMEI mutations. Microchromosomal abnormalities including SCN1A deletions, amplifications, and duplications are also found in patients with SMEI. Deletions range in size from one single exon to abnormalities extending beyond SCN1A and involving contiguous genes. The majority of SCN1A mutations in SMEI arise de novo. SCN1A mutations are found throughout the protein structure, and some clustering of mutations is observed in the C-terminus and the loops between segments 5 and 6 of the first three domains of the protein. Functional studies so far show no consistent relationship between changes to channel properties and clinical phenotype.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1528-1167
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
50 Suppl 5
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
20-3
pubmed:dateRevised
2009-8-31
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Clinical spectrum of SCN1A mutations.
pubmed:affiliation
Institute of Neurology, University Magna Graecia, Catanzaro, Italy. a.gambardella@isn.cnr.it
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't