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Transporter Information:
Name: sodium channel, voltage-gated, type II, alpha 1
Symbol: SCN2A1
Locations: 2q22-q23
Aliases: HBSCI
Old Name: sodium channel, voltage-gated, type II, alpha 1 polypeptide
PubMed (1317301): Lu CM, Han J, Rado TA, Brown GB. Differential expression of two sodium channel subtypes in human brain.FEBS Lett. 1992 May 25;303(1):53-8. PMID: 1317301 [PubMed - indexed for MEDLINE]

Two partial human brain sodium channel cDNA sequences (designated HBSC I and II) have been cloned and mapped to chromosome 2q23-2q24 by chromosome microdissection-PCR (CMPCR). The distribution of HBSC I and II mRNA in human brain was studied by means of a novel approach based on the ligase detection reaction. These studies demonstrate that HBSC I and II mRNA is heterogeneously distributed in brain, and that the relative ratio of the two forms can vary as much as 7-fold between different regions.

PubMed (10486327): Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF,Baulac M, Brice A, LeGuern E. A second locus for familial generalized epilepsy with febrile seizures plusmaps to chromosome 2q21-q33.Am J Hum Genet. 1999 Oct;65(4):1078-85. PMID: 10486327 [PubMed - indexed for MEDLINE]

We report a clinical and genetic study of a family with a phenotype resembling generalized epilepsy with febrile seizures plus (GEFS+), described by Berkovic and colleagues. Patients express a very variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age >6 years, and partial seizures, with a variable degree of severity. Linkage analysis has excluded both the beta 1 subunit gene (SCN1B) of a voltage-gated sodium (Na+) channel responsible for GEFS+ and the two loci, FEB1 and FEB2, previously implicated in febrile seizures. A genomewide search, under the assumption of incomplete penetrance at 85% and a phenocopy rate of 5%, permitted identification of a new locus on chromosome 2q21-q33. The maximum pairwise LOD score was 3.00 at recombination fraction 0 for marker D2S2330. Haplotype reconstruction defined a large (22-cM) candidate interval flanked by markers D2S156 and D2S2314. Four genes coding for different isoforms of the alpha-subunit voltage-gated sodium channels (SCN1A, SCN2A1, SCN2A2, and SCN3A) located in this region are strong candidates for the disease gene.