SCN1A antibody

Background of SCN1A antibody

Voltage-gated sodium channels (v) are essential for the generation of action potentials and for cell excitability. v channels are activated in response to depolarization and selectively allow flow of + ions. To date, nine v a subunits have been cloned and med v1.1-v1.9. The v channels are classified into two groups according to their sensitivity to Tetrodotoxin (TTX): TTX-sensitive (v1.1, v1.2, v1.3, v1.4, v1.6 and v1.7) and TTX-resistant (v1.5, v1.8 and v1.9). Mammalian sodium channels are heterotrimers, composed of a central, pore-forming α subunit and two auxiliary β subunits. The expression of the α subunit isoform is developmentally regulated and tissue specific. + channels in the adult central nervous system and heart contain β1 through β4 subunits, whereas + channels in adult skeletal muscle have only the β1 subunit. v1.1 is a highly tetrodotoxin-sensitive channel and is broadly expressed in neurons. Mutations in V1.1 are associated with at least two forms of epilepsy. Gain-of-function missense mutations are a primary cause of generalized epilepsy with febrile seizures plus (GEFS+). Loss-of-function mutations cause severe myoclonic epilepsy of infancy (SMEI).