sodium voltage-gated channel alpha subunit 8
Zuletzt aktualisiert 1 May 2023
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Der SCN8A gene belongs to a family of genes that provide instructions for making sodium channels. These channels allow positively charged sodium (Na) atoms (sodium ions) to pass into cells; they play a key role in a cell's ability to generate and transmit electrical signals.
Normal function
Der SCN8A gene belongs to a family of genes that provide instructions for making sodium channels. These channels allow positively charged sodium (Na) atoms (sodium ions) to pass into cells; they play a key role in a cell's ability to generate and transmit electrical signals.
Der SCN8A gene provides instructions for making one part (the alpha subunit) of a sodium channel called Nav1.6. The alpha subunit forms the hole (pore) in the cell membrane through which sodium ions flow. Nav1.6 channels are primarily found in the nerve cells (neurons) of the brain and spinal cord (central nervous system) and neurons that connect the central nervous system to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Nav1.6 channels control the flow of sodium ions into cells, which makes it possible for neurons to communicate by generating and transmitting electrical signals.
Conditions referring to this gene or chromosome
Other names
BFIS5
CERIII
CIAT
hNa6/Scn8a voltage-gated sodium channel
NaCh6
Nav1.6
sodium channel, voltage gated, type VIII, alpha subunit
voltage-gated sodium channel subunit alpha Nav1.6
voltage-gated sodium channel type VIII alpha protein
Related patient information and medicines
Patient information leaflet
Kaliumsparende Diuretika
Diuretika are medicines which increase the amount of fluid removed from the body when we pass urine. Potassium-sparing diuretics are one type of diuretic. They are weak diuretics usually prescribed in combination with other types of diuretics. They are used to increase the amount of fluid passed from the body in urine, whilst also preventing too.
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Ernährung bei chronischer Nierenerkrankung
Chronische Nierenerkrankung (CKD) is a common long-term condition where the kidneys aren't working as well as they should be. There are some dietary choices that are recommended for people with early CKD. People with more advanced CKD may be advised to follow a special diet, usually with the support of a specialist dietician. Some people with advanced.
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Kann ich Magnesium und Flecainid zusammen einnehmen?
In some cases, magnesium can actually be helpful for heart rhythm issues, but it must be balanced correctly. Why this happens Both magnesium and flecainide affect the electrical signals and mineral channels (like sodium and potassium) in your heart cells. While they don't usually stop each other from being absorbed, having too much or too little.
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Hoher Blutdruck
Bluthochdruck (Hypertonie) tritt auf, wenn der Druck auf die Wände der Blutgefäße (verursacht durch das Blut in ihnen) höher als normal ist. This means the heart has to work harder and the blood vessels are under more strain, making it a major risk factor for heart disease , stroke and other serious conditions. What is high blood pressure. High.
Patient information leaflet
Hyponatriämie
Hyponatraemia is a low level of sodium in the blood. Sodium levels in the blood have to be tightly controlled. Various chemical messengers (hormones) and organs are involved in this process. For example, hormones involved include antidiuretic hormone and cortisol, and organs involved include the brain and kidneys. There is a very close.
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Zystoskopie
A cystoscopy is a procedure which looks into the bladder with a special telescope called a cystoscope. Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the instructions given by your doctor or local hospital. Why is a cystoscopy done. To.
Weiterführende Lektüre und Referenzen
- sodium voltage-gated channel alpha subunit 8; MedlinePlus, National Library of Medicine.
- Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A. De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11.002. Epub 2016 Nov 6.
- O'Brien JE, Meisler MH. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet. 2013 Oct 28;4:213. doi: 10.3389/fgene.2013.00213.
- Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2.
- Wagnon JL, Barker BS, Hounshell JA, Haaxma CA, Shealy A, Moss T, Parikh S, Messer RD, Patel MK, Meisler MH. Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann Clin Transl Neurol. 2015 Dec 21;3(2):114-23. doi: 10.1002/acn3.276. eCollection 2016 Feb.
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1 May 2023 | Neueste Version
1 Jul 2017 | Ursprünglich veröffentlicht
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