Preferred Label : NAV1.1 Voltage-Gated sodium channel;
MeSH definition : A voltage-gated sodium channel subtype that is predominantly expressed in the CENTRAL
NERVOUS SYSTEM. Defects in the SCN1A gene which codes for the alpha subunit of this
sodium channel are associated with DRAVET SYNDROME, generalized epilepsy with febrile
seizures plus, type 2 (GEFS 2), and familial hemiplegic migraine type 3.;
MeSH synonym : NAV1.1 voltage gated sodium channel; Voltage-Gated sodium channel type 1; voltage gated sodium channel type 1; type 1 Voltage-Gated sodium channel; type 1 voltage gated sodium channel;
MeSH hyponym : Voltage-Gated sodium channel type 1 subunit alpha; Voltage Gated Sodium Channel Type 1 Subunit alpha; Sodium Channel, Voltage-Gated, Type I, alpha Protein; SCN1A Sodium Channel alpha Subunit; Voltage-Gated Sodium Channel Type 1 alpha Subunit; Voltage Gated Sodium Channel Type 1 alpha Subunit; NAV1.1 alpha Subunit; alpha Subunit, NAV1.1;
Is substance : O;
Origin ID : D062550;
UMLS CUI : C3494329;
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A voltage-gated sodium channel subtype that is predominantly expressed in the CENTRAL
NERVOUS SYSTEM. Defects in the SCN1A gene which codes for the alpha subunit of this
sodium channel are associated with DRAVET SYNDROME, generalized epilepsy with febrile
seizures plus, type 2 (GEFS 2), and familial hemiplegic migraine type 3.