The scn1a gene encodes a voltage-gated sodium channel alpha subunit protein, which functions as an ion channel responsible for the generation and propagation of action potentials. In these frogs, the p...[+]

The scn1a gene encodes a voltage-gated sodium channel alpha subunit protein, which functions as an ion channel responsible for the generation and propagation of action potentials. In these frogs, the protein is localized to the plasma membrane and is expressed within the nervous system, including the brain, spinal cord, and peripheral neurons. [-]

             generalized epilepsy with febrile seizures plus
             obsolete Dravet syndrome
             familial hemiplegic migraine
             obsolete infantile epileptic encephalopathy
             generalized epilepsy with febrile seizures plus 1
             generalized epilepsy with febrile seizures plus 2
             Dravet syndrome
             familial hemiplegic migraine 3

          DRAVET SYNDROME; DRVT
          GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2
          MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD