The KCNT1 gene has other symbols as “ENFL5”, “SLACK”, “EIEE14”, “KCa4.1”, “Slo2.2”, and “bA100C15.2”. It is located at 9q34.3. Encoding a sodium-activated potassium channel, this gene is highly expressed in the brain (Nagase et al. 2000). It has been related to early infantile epileptic encephalopathy and malignant migrating partial seizures of infancy (MMPSI) (Barcia et al. 2012).
Missense mutations in the KCNT1 gene (such as R928C) may lead to autosomal dominant nocturnal frontal lobe epilepsy (Heron et al. 2012). Affected individuals may have seizure onset during childhood. They can also have behavioral or psychiatric symptoms with certain degree of intellectual disability.
Barcia, G., Fleming, M. R., Deligniere, A., Gazula, V.-R., Brown, M. R., Langouet, M., Chen, H., Kronengold, J., Abhyankar, A., Cilio, R., Nitschke, P., Kaminska, A., Boddaert, N., Casanova, J.-L., Desguerre, I., Munnich, A., Dulac, O., Kaczmarek, L. K., Colleaux, L., Nabbout, R. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nature Genet. 44: 1255-1259, 2012.
Heron, S. E., Smith, K. R., Bahlo, M., Nobili, L., Kahana, E., Licchetta, L., Oliver, K. L., Mazarib, A., Afawi, Z., Korczyn, A., Plazzi, G., Petrou, S., Berkovic, S. F., Scheffer, I. E., Dibbens, L. M. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet. 44: 1188-1190, 2012.
Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7: 65-73, 2000.