SCN2A


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SCN2A

A gene on chromosome 2q24.3 that encodes a large alpha subunit of a transmembrane glycoprotein complex, which forms a voltage-gated sodium channel. The SCN2A protein product is expressed in muscle and brain.

Molecular pathology
SCN2A mutations are linked to various seizure disorders.
References in periodicals archive ?
Missense mutation of sodium channel gene SCN2A causes Dravet syndrome.
SCN1A geninde yeni bir mutasyonun tanimlandigi Dravet Sendromu olgusu/A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene
The patient was found to harbor a heterozygous insertion-deletion NM_021007.2:c.2350_2365delinsTGTACTATCCAACAGATACT (NP_066287.2:p.(Thr784Cysfs*45)) in the SCN2A gene, which was confirmed by Sanger sequencing [Figure 1].
Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder
After treatment of both scrapie-infected Syrian hamster brain and ScN2a cell lines with guanidinehydrochloride, which allows epitope unmasking in native [PrP.sup.Sc], the abnormal protein was primarily described intracellularly [75], where it was found to accumulate in lysosomes.
Prion protein misfolding, strains, and neurotoxicity: an update from studies on mammalian prions
Scientists also identified the deleterious mutations variants in four novel, nine known, and eight candidate autism risk genes, including CAPRIN1 and AFF2 (both linked to FMR1 involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (also linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome.
BGI, partners' whole genome sequencing research shows positive findings in autism diagnosis, therapy
Although mutation of the equivalent residue from Q to lysine (K) in epitope-tagged mouse PrP had no effect on [PrP.sup.Sc] formation in transfected chronically infected ScN2A cells, the effects of the Q-to-E substitution were not assessed (36).
Chronic wasting disease prions in elk antler velvet
A gain-of-function mutation in the sodium channel gene SCN2A results in seizures and behavioral abnormalities.
Developmental neurotoxicity of pyrethroid insecticides: critical review and future research needs
Animal studies were also conducted in which mice were inoculated with mouse ScN2a cells treated with various antibodies.
Protein conformation and diagnostic tests: the prion protein
Ng et al., "Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy," Human Genetics, vol.
Identifying and Analyzing Novel Epilepsy-Related Genes Using Random Walk with Restart Algorithm
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