SCN1A

SCN1A

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 SCN1A protein product is expressed in muscle and brain.

Molecular pathology
SCN1A mutations are linked to various seizure and migraine disorders.
References in periodicals archive ?
This work explores a protein computational modeling approach to predicting structural changes in a specific sodium channel in the brain, based on mutations in that channel's corresponding gene, SCN1A.
Dravet syndrome or severe myoclonic epilepsy is a genetic syndrome that occurs when there is a mutation on the sodium channel gene SCN1A (the same gene defect discussed above in GEFS+).
Primary Insecticide class Mode of Vulnerable neurological action genetic target subpopulations AChE OP Inhibition PON1 polymorphisms CB Inhibition Voltage-gated OC Modified SCN1A, SCN1B sodium gating channel kinetics pyrethrin/pyrethriod Modified HCE1 (CES1) gating kinetics GABA-gated Cyclodienes (a form Antagonism HCE2 (CES2) GABA chloride of OC) receptor channel polymorphisms Phenylpyrazole Antagonism nAChR(a) Neonicotinoid Agonism Haploinsufficiency of [alpha]7 nAChR Adapted from Scharf (2003).
FGF23 Cardiac hypertrophy Imipramine EPO, UCN2, TERT, VDR, ACE Cardiac arrhythmia lmipramine ATP1A3, SCN1A, KCNH7, KCNG2, KCNQ1, ADORA1, ADRA1B, ADRB3, ADRA1D Cardiac adenopathy EtOH-Fr DLCAP4, MTHFS, EVC2, MAPK9.
In approximately 2/3 of the patients, mutations in SCN1A gene were found.
Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.
ID (a) Protein name Peptide KPYM Pyruvate kinase, isozymes M1/M2 LDIDSPPITAR CATD Cathepsin D LLDIACWIHHK GDIR Rho GDP dissociation inhibitor 1 SIQEIQELDKDDESLRK KCY UMP-CMP kinase KNPDSQYGELIEK GSTA2 Glutathione S-transferase A2 NDGYLMFQQVPMVEIDGMK AKAP9 A-Kinase anchor protein 9 KAYINTISSLKDLITK SCN1A Sodium channel protein, brain FMASNPSK I [alpha]-subunit RAB26 RAS-related protein RAB-26 FKDGAFLAGTFISTVGIDFR Hits (b) Scores (c) ID (a) m/z NS (e) LS HS NS LS HS KPYM 599.
OPKO is using its broad proprietary platform technology that utilizes specifically designed oligonucleotides to up-regulate a targeted gene through inhibition of Natural Antisense Transcripts (NATs) to increase the production of endogenous SCN1A (also referred to as sodium channel) protein.
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
The team successfully cloned the responsible gene, identified as SCN1A, and examined the biophysical properties of three mutations associated with GEFS+.