KCNT1

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The sodium-activated potassium channel subfamily T member 1 is a 1230 amino acid peptide coded by the KCNT1 gene at 9q34.3. It is activated by high intracellular sodium or chloride levels and has a role in pain perception. There are at least 3 isoforms. Functionally it allows the slow hyperpolarization that follows repetitive firing of neurons and is found throughout the CNS. Variations in the gene are associated with early-onset epileptic disorders, malignant migrating partial seizures of infancy (MMPSI more specifically called in this case, EIEE14 - early infantile epileptic encephalopathy type 14) and autosomal dominant nocturnal frontal lobe epilepsy.

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