channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene. The SCN1A gene is located on chromosome 2 of humans...
22 KB (2,605 words) - 13:30, 22 June 2024
mutations in the SCN1A gene, but it can also be found in patients with other mutations. Likewise, the presence of a mutation in the SCN1A gene does not necessarily...
33 KB (4,117 words) - 05:05, 25 June 2024
Known causative gene mutations are in the sodium channel α subunit genes SCN1A, an associated β subunit SCN1B, and in a GABAA receptor γ subunit gene,...
35 KB (3,419 words) - 05:25, 25 May 2024
Familial hemiplegic migraine (section FHM3 (SCN1A))
FHM and is caused by mutations in a sodium channel α-subunit coding gene, SCN1A. These three subtypes do not account for all cases of FHM, suggesting the...
41 KB (4,222 words) - 16:24, 26 April 2024
Lossin C. "SCN1A infobase". Archived from the original on 2011-07-21. Retrieved 2009-10-30. compilation of genetic variations in the SCN1A gene that alter...
51 KB (5,597 words) - 08:29, 23 July 2024
Genetic associations Type OMIM Gene FEB3A 604403 SCN1A FEB3B 604403 SCN9A FEB4 604352 GPR98 FEB8 611277 GABRG2...
29 KB (2,998 words) - 19:30, 16 March 2024
Lossin C. "SCN1A infobase". Archived from the original on 2011-07-21. Retrieved 2009-10-30. compilation of genetic variations in the SCN1A gene that alter...
34 KB (3,587 words) - 12:35, 24 June 2024
gene CACNA1C have been identified with LQT8. The sodium ion channel genes SCN1A, SCN1B, SCN2A, and SCN8A and the potassium channel KCNA1 have been implicated...
24 KB (2,710 words) - 12:54, 23 August 2024
Oracle Database Thiocyanate, an organic compound in the cyanate family SCN1A to SCN11A, and SCN2B to SCN4B, sodium channel genes and beta subunits Severe...
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Duchenne muscular dystrophy Dystrophin X-linked recessive Dravet syndrome SCN1A, SCN2A 1:20,000-40,000 Ectrodactyly-polydactyly syndrome Edwards syndrome...
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using GEFS+ mutations at SCN1A gene for knock-in's at the para locus in D. melanogaster. Voltage-gated ion channel Nav1.2 SCN8A SCN1A "Dmel\para". FlyBase...
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syndrome, which is an epilepsy disorder, CRISPR has been used to correct the SCN1A gene mutation. Despite the progress that has been made, there are still...
170 KB (19,936 words) - 22:49, 27 August 2024
related mutations characterized thus far occur in the PCDH19 gene. The SCN1A gene, associated with Dravet syndrome, is the most clinically relevant....
40 KB (4,237 words) - 16:28, 11 March 2024
"Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations". Developmental Medicine...
14 KB (1,291 words) - 15:52, 20 November 2023
Known causative genes for GEFS+ are the sodium channel α subunit genes SCN1A and SCN2A and the β subunit gene SCN1B. Mutations in the GABAA receptor...
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2 (KCNT2) - SLICK KCa3.1 (IKCa1, SK4, KCNN4) KCa5.1 (Slo3, KCNU1) NALCN SCN1A; SCN2A; SCN2A2; SCN3A; SCN4A; SCN5A; SCN7A; SCN8A; SCN9A; SCN10A; SCN11A...
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whose associated disorders have more robust incidence estimates, such as SCN1A for Dravet syndrome. CDD is a rare condition although >1,000 cases have...
25 KB (2,458 words) - 08:29, 3 July 2024
been reported. There is a high prevalence of febrile seizures (about 17%). SCN1A mutations have been reported in a child and in 2 siblings with relatively...
41 KB (5,827 words) - 04:58, 13 January 2024
Q9UN30 14366 SCML2 HGNC:10581 Q9UQR0 14367 SCML4 HGNC:21397 Q8N228 14368 SCN1A HGNC:10585 P35498 14369 SCN1B HGNC:10586 Q07699 14370 SCN2A HGNC:10588 Q99250...
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M, Reichert J, Buxbaum JD, Meisler MH (February 2003). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism". Molecular Psychiatry. 8 (2): 186–94...
8 KB (1,055 words) - 23:49, 29 December 2023
transcriptional activators to the promoter region of the sodium channel gene Scn1a in interneurons. Magnetofection is done through the use of super paramagnetic...
24 KB (2,918 words) - 07:12, 8 May 2024
PMID 12477932. Weiss LA, Escayg A, Kearney JA, et al. (2003). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism". Mol. Psychiatry. 8 (2): 186–94. doi:10...
10 KB (1,266 words) - 01:31, 24 December 2023
Reichert, J.; Buxbaum, J. D.; Meisler, M. H. (2003-02-01). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism". Molecular Psychiatry. 8 (2): 186–194...
21 KB (2,412 words) - 12:23, 13 April 2024
(PaurTx3) inhibits several voltage gated sodium channel subtypes (Nav1.1/SCN1A, Nav1.2/SCN2A, Nav1.4/SCN4A, Nav1.5/SCN5A, and Nav1.8/SCN10A) (Bosmans 2006)...
6 KB (692 words) - 20:04, 19 August 2021
"Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4". Headache. 46 (7): 1136–41. doi:10.1111/j.1526-4610.2006.00504...
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Jacinta M McMahon; Xenia Iona; et al. (1 March 2007). "The spectrum of SCN1A-related infantile epileptic encephalopathies". Brain. 130 (Pt 3): 843–852...
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(SUDEP). The syndrome has been linked to loss of function mutations in the SCN1A gene that causes an improper folding of NaV1.1 channels in GABAergic interneurons...
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honeycomb degeneration of retina; 126600; EFEMP1 Dravet syndrome; 607208; SCN1A Duane retraction syndrome 2; 604356; CHN1 Duane-radial ray syndrome; 607323;...
234 KB (18,877 words) - 15:43, 9 May 2024