Sodium Channelopathies
From WikiMSK
Voltage gated sodium channels are transmembrane polypeptides with four domains. A pore is made with all four domains through which sodium can enter the cell. There is also an ancillary beta unit for anchoring and kinetics.
There are nine known members of sodium channels labelled Nav1.1 through Nav1.9. The associated genes are named SCN1A through SCN11A (the SCN6/7A gene is part of the Nax sub-family and has uncertain function)
Protein name | Gene | Expression profile | Associated human channelopathies |
---|---|---|---|
Nav1.1 | SCN1A | Central neurons, [peripheral neurons] and cardiac myocytes | febrile epilepsy, GEFS+, Dravet syndrome (also known as severe myclonic epilepsy of infancy or SMEI), borderline SMEI (SMEB), West syndrome (also known as infantile spasms), Doose syndrome (also known as myoclonic astatic epilepsy), intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC), Panayiotopoulos syndrome, familial hemiplegic migraine (FHM), familial autism, Rasmussens's encephalitis and Lennox-Gastaut syndrome |
Nav1.2 | SCN2A | Central neurons, peripheral neurons | inherited febrile seizures, epilepsy, and autism spectrum disorder |
Nav1.3 | SCN3A | Central neurons, peripheral neurons and cardiac myocytes | epilepsy, pain, brain malformations |
Nav1.4 | SCN4A | Skeletal muscle | Certain non-dystrophic myotonias: Sodium channel myotonia, Paramyotonia congenita, Hyperkalaemic periodic paralysis |
Nav1.5 | SCN5A | Cardiac myocytes, uninnervated skeletal muscle, central neurons, gastrointestinal smooth muscle cells and Interstitial cells of Cajal | Cardiac: Long QT syndrome Type 3, Brugada syndrome, progressive cardiac conduction disease, familial atrial fibrillation and idiopathic ventricular fibrillation;
Gastrointestinal: Irritable bowel syndrome; |
Nav1.6 | SCN8A | Central neurons, dorsal root ganglia, peripheral neurons, heart, glia cells | Epilepsy, ataxia, dystonia, tremor |
Nav1.7 | SCN9A | Dorsal root ganglia, sympathetic neurons, Schwann cells, and neuroendocrine cells | erythromelalgia, PEPD, Congenital Insensitivity to Pain (CIP), Small fibre neuropathy |
Nav1.8 | SCN10A | Dorsal root ganglia | Small fibre neuropathy, neuropsychiatric disorders |
Nav1.9 | SCN11A | Dorsal root ganglia | Small fibre neuropathy |
Nax | SCN7A | heart, uterus, skeletal muscle, astrocytes, dorsal root ganglion cells | none known |
References
- ā "Sodium channel". Wikipedia (in English). 2022-12-02.