scn1a wikipedia - EAS
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See all on Wikipediahttps://en.wikipedia.org/wiki/Nav1.1The SCN1A gene is located on chromosome 2 of humans, and is made up of 26 exons spanning a total length of 6030 nucleotide base pairs (bp). Alternative splicing of exon 5 gives rise to two alternate exons. The promoter has been identified 2.5 kilobase pairs (kb) upstream of the transcription
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See moreNav1.1, also known as the sodium channel, voltage-gated, type I, alpha subunit (SCN1A), is a protein which in humans is encoded by the SCN1A gene.
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See moreThe vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, chiefly in nerve and muscle. Voltage-sensitive sodium
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See moreOn 29 November 2008, The Sydney Morning Herald reported the first evidence of private intellectual property rights over human DNA having adversely affected medical care. The Melbourne company Genetic Technologies (GTG) controls rights to the gene, and
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• Lerche H, Jurkat-Rott K, Lehmann-Horn F (2001). "Ion channels and epilepsy". American Journal of Medical Genetics. 106 (2): 146–59. doi:10.1002/ajmg.1582. PMID
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See moreWikipedia text under CC-BY-SA license- https://fr.wikipedia.org/wiki/SCN1A
le gène humain SCN1A, code la protéine du canal sodium, voltage-dépendant, type I, sous-unité alpha .
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- https://en.wikipedia.org/wiki/SCNN1A
The SCNN1A gene encodes for the α subunit of the epithelial sodium channel ENaC in vertebrates.ENaC is assembled as a heterotrimer composed of three homologous subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1B, SCNN1G, and SCNN1D.. …
- https://en.wikipedia.org/wiki/Dravet_syndrome
- Dravet syndrome, previously known as severe myoclonic epilepsy of infancy, is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. It is very difficult to treat with anticonvulsant medications. It often begins before 1 year of age, with 6 ...
- Specialty: Neurology
- Pronunciation: dra-vay
- Other names: Severe myoclonic epilepsy of infancy, severe polymorphic epilepsy of infancy, borderland SMEI (SMEB), borderline SMEI, intractable childhood epilepsy with generalised tonic clonic seizures (ICEGTCS)
- epilepsygenetics.net/the-epilepsiome/scn1a-this-is-what-you-need-to-know
- Sodium Channels. SCN1A encodes for the alpha-1 subunit of the voltage-gated sodium channel (Na(V)1.1). The transmembrane alpha subunit forms the central pore of the channel. This ion channel is critical to the generation and propagation of action potentials. The channel responds to the voltage difference across the cell membrane to create a pore th...
- https://medlineplus.gov/genetics/gene/scn1a
sodium voltage-gated channel alpha subunit 1 Normal Function Collapse Section The SCN1A gene belongs to a family of genes that provide instructions for making sodium channels. These …
- https://en.wikipedia.org/wiki/SCN3A
Function. Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta …
- https://en.wikipedia.org/wiki/SCN1B
SCN1B. Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene. Voltage-gated sodium channels are essential for the generation and propagation of …
- https://en.wikipedia.org/wiki/SCN8A
Sodium channel, voltage gated, type VIII, alpha subunit also known as SCN8A or Na v 1.6 is a membrane protein encoded by the SCN8A gene. Na v 1.6 is one sodium channel isoform and is …
- https://en.wikipedia.org/wiki/SCN7A
SCN7A. Sodium channel protein type 7 subunit alpha is a protein that in humans is encoded by the SCN7A gene on the chromosome specifically located at 2q21-23 chromosome site. This is one …
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