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KCNT1 gene
URL of this page: https://medlineplus.gov/genetics/gene/kcnt1/

KCNT1 gene

potassium sodium-activated channel subfamily T member 1

Normal Function

The KCNT1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

Potassium channels are made up of several protein components (subunits). Each channel contains four alpha subunits that form the hole (pore) through which potassium ions move. Potassium channels can be made from four alpha subunits produced from the KCNT1 gene, or they can be made from subunits produced from both the KCNT1 gene and another gene called the KCNT2 gene.

The specific function of a potassium channel depends on its protein components and its location in the body. Channels that are made with the KCNT1 protein are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells. This flow of ions helps generate currents that activate (excite) neurons and send signals in the brain.

Researchers have determined that a molecule called PKC can increase the activity of channels that are made with the KCNT1 protein. While these channels can generate electrical currents without PKC, the currents are stronger when PKC attaches to the channel and increases the channel's activity.

Health Conditions Related to Genetic Changes

Autosomal dominant sleep-related hypermotor epilepsy

Pathogenic variants (also called mutations) in the KCNT1 gene can cause autosomal dominant sleep related hypermotor epilepsy (ADSHE), a genetic form of epilepsy that is characterized by seizures that typically begin while a person is sleeping and involve some degree of muscle (motor) activity. The seizures may include repetitive, abnormal muscle movements; muscle stiffness; or abnormal body positioning. People with ADSHE that is caused by KCNT1 gene variants typically have seizures that begin early in life and do not respond well to treatment. These individuals may also have intellectual disabilities and behavioral or psychiatric issues.

Most of the KCNT1 variants that are responsible for ADSHE cause cells to produce a version of the KCNT1 protein that does not function properly. The abnormal protein increases the flow of ions through the potassium channel. Because the activity of the channel is enhanced, these variants are described as “gain-of-function variants.” The change in the flow of potassium ions likely contributes to the excitation of neurons and the seizures seen in people with ADSHE.

More About This Health Condition

Epilepsy of infancy with migrating focal seizures

Pathogenic variants in the KCNT1 gene have been found in individuals with epilepsy of infancy with migrating focal seizures (EIMFS). This condition is typically characterized by recurrent seizures that begin before the age of 6 months. Affected individuals usually have significant developmental delays. KCNT1 gene variants are the most common genetic cause of EIMFS.

Most of the KCNT1 gene variants that cause EIMFS lead to the substitution of one protein building block (amino acid) for another in the KCNT1 protein. These variants are typically gain-of-function variants that increase the flow of potassium ions through the potassium channels. The change in the flow of potassium ions likely contributes to the excitation of neurons and the repeated seizures seen in people with EIMFS. 

More About This Health Condition

Other disorders

Pathogenic variants in the KCNT1 gene have also been associated with a type of developmental and epileptic encephalopathy (DEE). DEEs are a group of epileptic disorders that are characterized by developmental delays and abnormal brain function (encephalopathy) that worsens over time. Affected individuals often have seizures that are difficult to control with medication. Additional signs and symptoms seen in children with KCNT1-related DEE can include poor muscle tone (hypotonia), movement disorders, and a small head size (microcephaly). The KCNT1 gene variants that are associated with DEE are typically gain-of-function variants that increase the flow of ions through the potassium channels.

Other Names for This Gene

  • KCa4.1
  • KIAA1422
  • potassium channel, sodium activated subfamily T, member 1
  • potassium channel, subfamily T, member 1
  • SLACK
  • Slo2.2

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21. Citation on PubMed or Free article on PubMed Central
  • Bhattacharjee A, Kaczmarek LK. For K+ channels, Na+ is the new Ca2+. Trends Neurosci. 2005 Aug;28(8):422-8. doi: 10.1016/j.tins.2005.06.003. Citation on PubMed
  • Gertler T, Bearden D, Bhattacharjee A, Carvill G. KCNT1-Related Epilepsy. 2018 Sep 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK525917/ Citation on PubMed
  • Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21. Citation on PubMed
  • Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T. A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene. 2013 Dec 1;531(2):467-71. doi: 10.1016/j.gene.2013.08.096. Epub 2013 Sep 10. Citation on PubMed
  • Kurahashi H, Hirose S. Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. 2002 May 16 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1169/ Citation on PubMed
  • Santi CM, Ferreira G, Yang B, Gazula VR, Butler A, Wei A, Kaczmarek LK, Salkoff L. Opposite regulation of Slick and Slack K+ channels by neuromodulators. J Neurosci. 2006 May 10;26(19):5059-68. doi: 10.1523/JNEUROSCI.3372-05.2006. Citation on PubMed
  • Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshe SL, Nabbout R. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun;63(6):1349-1397. doi: 10.1111/epi.17239. Epub 2022 May 3. Citation on PubMed

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