The SCN Portal is a coalition of investigators seeking to aggregate and harmonize data generated to study SCN-related disorders, and to make summary data interactively accessible for the wider scientific community, while providing educational resources for everyone.

2007年11月29日 · SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end.

2024年12月25日 · SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2) is a Protein Coding gene. Diseases associated with SCN2A include Seizures, Benign Familial Infantile, 3 and Developmental And Epileptic Encephalopathy 11. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

2020年3月30日 · Voltage-gated sodium channels (SCNs) are vital for the initiation and propagation of action potentials in neurons and most electrically excitable tissues. 1 In recent years, genetic variants in the four brain-expressed SCNs, SCN1A, SCN2A, SCN3A, and SCN8A, have emerged as one of the most frequent causes of Mendelian forms of epilepsy and neurode...

The SCN1A gene codes for the alpha subunit of the voltage-gated sodium ion channel making it a member of ten paralogous gene families which code for the voltage-gated sodium transmembrane proteins Na V 1.1.

2024年12月25日 · SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11) is a Protein Coding gene. Diseases associated with SCN11A include Episodic Pain Syndrome, Familial, 3 and Neuropathy, Hereditary Sensory And Autonomic, Type Vii. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons.

Pathogenic variants in the voltage-gated sodium channel gene family (SCNs) lead to early onset epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral neuropathies and cardiac arrhythmias. Disease-associated variants have diverse functional effects ranging from complete loss-of-function to marked gain-of-function.

SCN1A, a Nav1.1 α subunit composed of 26 coding exons and located in the 85-kb gene region, is the most common epileptic gene and the most common pathogenic gene in the Dravet syndrome (DS), a catastrophic and intractable epileptic encephalopathy (EE) .

The SCN1A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.1. These channels are primarily found in the brain, where they control the flow of sodium ions into cells.

Gene target information for SCN. Find diseases associated with this biological target and compounds tested against it in bioassay experiments.