Anti-SCN1A (NaV1.1) Antibody

Voltage-gated Na⁺ channels (Na_v) are essential for the generation of action potentials and for cell excitability¹. Na_v channels are activated in response to depolarization and selectively allow flow of Na⁺ ions. To date, nine Na_v a subunits have been cloned and named Na_v1.1-Na_v1.9^4-5.  The Na_v channels are classified into two groups according to their sensitivity to Tetrodotoxin (TTX): TTX-sensitive (Na_v1.1, Na_v1.2, Na_v1.3, Na_v1.4, Na_v1.6 and Na_v1.7)  and TTX-resistant (Na_v1.5, Na_v1.8 and Na_v1.9)^2-3. 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. Na⁺ channels in the adult central nervous system and heart contain β₁ through β₄ subunits, whereas Na⁺ channels in adult skeletal muscle have only the β₁ subunit^6,7.
 
Na_v1.1 is a tetrodotoxin-sensitive channel and is broadly expressed in neurons⁷.
 
Mutations in Na_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) ^8,9.