sodium voltage-gated channel alpha subunit 1
Zuletzt aktualisiert 1 May 2023
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Der SCN1A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
Der SCN1A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell's ability to generate and transmit electrical signals.
Der 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. NaV1.1 channels are involved in transmitting signals from one nerve cell (neuron) to another. Communication between neurons depends on chemicals called neurotransmitters, which are released from one neuron and taken up by neighboring neurons. The flow of sodium ions through NaV1.1 channels helps determine when neurotransmitters will be released.
Conditions referring to this gene or chromosome
Other names
GEFSP2
HBSCI
NAC1
Nav1.1
SCN1
SCN1A_HUMAN
sodium channel protein, brain I alpha subunit
sodium channel, voltage gated, type I alpha subunit
sodium channel, voltage-gated, type I, alpha
sodium channel, voltage-gated, type I, alpha polypeptide
sodium channel, voltage-gated, type I, alpha subunit
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Hyponatriämie
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Weiterführende Lektüre und Referenzen
- sodium voltage-gated channel alpha subunit 1; MedlinePlus, National Library of Medicine.
- Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. 2005 Jul 30-Aug 5;366(9483):371-7. doi: 10.1016/S0140-6736(05)66786-4.
- Fujiwara T. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res. 2006 Aug;70 Suppl 1:S223-30. doi: 10.1016/j.eplepsyres.2006.01.019. Epub 2006 Jun 27.
- Gargus JJ, Tournay A. Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatr Neurol. 2007 Dec;37(6):407-10. doi: 10.1016/j.pediatrneurol.2007.06.016.
- Martin MS, Dutt K, Papale LA, Dube CM, Dutton SB, de Haan G, Shankar A, Tufik S, Meisler MH, Baram TZ, Goldin AL, Escayg A. Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. J Biol Chem. 2010 Mar 26;285(13):9823-9834. doi: 10.1074/jbc.M109.078568. Epub 2010 Jan 25.
- Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. SCN1A mutations and epilepsy. Hum Mutat. 2005 Jun;25(6):535-42. doi: 10.1002/humu.20178.
- Pietrobon D. Familial hemiplegic migraine. Neurotherapeutics. 2007 Apr;4(2):274-84. doi: 10.1016/j.nurt.2007.01.008.
- Spampanato J, Escayg A, Meisler MH, Goldin AL. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J Neurosci. 2001 Oct 1;21(19):7481-90. doi: 10.1523/JNEUROSCI.21-19-07481.2001.
- Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, Thom M, Sen A, Shorvon SD, Sander JW, Wood NW, Goldstein DB. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci U S A. 2005 Apr 12;102(15):5507-12. doi: 10.1073/pnas.0407346102. Epub 2005 Apr 1.
- Tate SK, Singh R, Hung CC, Tai JJ, Depondt C, Cavalleri GL, Sisodiya SM, Goldstein DB, Liou HH. A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet Genomics. 2006 Oct;16(10):721-6. doi: 10.1097/01.fpc.0000230114.41828.73.
- Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M. The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online. Hum Mutat. 2007 May;28(5):522. doi: 10.1002/humu.9486.
- Volkers L, Kahlig KM, Verbeek NE, Das JH, van Kempen MJ, Stroink H, Augustijn P, van Nieuwenhuizen O, Lindhout D, George AL Jr, Koeleman BP, Rook MB. Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. Eur J Neurosci. 2011 Oct;34(8):1268-75. doi: 10.1111/j.1460-9568.2011.07826.x. Epub 2011 Aug 22.
- Yamakawa K. Na channel gene mutations in epilepsy--the functional consequences. Epilepsy Res. 2006 Aug;70 Suppl 1:S218-22. doi: 10.1016/j.eplepsyres.2005.11.025. Epub 2006 Jun 27.
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1 May 2023 | Neueste Version
1 Jul 2017 | Ursprünglich veröffentlicht
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