autosomal dominant pattern. It is caused in most cases by a mutation in the KCNJ2 gene which encodes an ion channel that transports potassium out of cardiac...
23 KB (2,389 words) - 11:02, 11 August 2024
be reduced if potassium ion concentrations are kept high. Mutations in KCNJ2 lead to hypokalemic periodic paralysis with cardiac arrhythmias called Andersen–Tawil...
17 KB (2,109 words) - 04:56, 30 August 2024
at the PVRL1 gene), or chromosome 17 (possibly at the SOX9 gene or the KCNJ2 gene) have all been implicated in PRS. Some evidence suggests that genetic...
22 KB (2,753 words) - 19:55, 23 August 2024
IKs KV7.1 KCNQ1 2,3 K+ IKr KV11.1 (hERG) KCNH2 3 K+ IK1 Kir2.1/2.2/2.3 KCNJ2/KCNJ12/KCNJ4 3,4 Na+, Ca2+ INaCa 3Na+-1Ca2+-exchanger NCX1 (SLC8A1) ion...
46 KB (5,430 words) - 18:10, 24 April 2024
Sodium Channel Subunit Alpha Nav1.4 (17q23.3) GALK1: galactokinase 1 (17q24) KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2 (17q24.3)...
26 KB (1,916 words) - 21:48, 21 August 2024
SCN5A have been identified with LQT3. Mutations in potassium channel gene KCNJ2 have been identified with LQT7. Mutations in calcium channel gene CACNA1C...
24 KB (2,710 words) - 12:54, 23 August 2024
inherited in an autosomal-dominant manner and is caused by mutations in the KCNJ2 gene which encodes the potassium channel protein Kir2.1. LQT8, also known...
64 KB (6,615 words) - 10:17, 11 August 2024
HGNC:15523 Q9Y2W7 8010 KCNIP4 HGNC:30083 Q6PIL6 8011 KCNJ1 HGNC:6255 P48048 8012 KCNJ2 HGNC:6263 P63252 8013 KCNJ3 HGNC:6264 P48549 8014 KCNJ4 HGNC:6265 P48050...
277 KB (17 words) - 15:46, 9 May 2024
periodic paralysis, cardiac arrhythmias and dysmorphic features. (See also KCNJ2) Barium poisoning is likely due to its ability to block Kir channels. Atherosclerosis...
22 KB (2,007 words) - 01:49, 26 March 2024
Mutations in the KCNQ1 gene cause familial atrial fibrillation. The KCNE2 and KCNJ2 genes are associated with familial atrial fibrillation. A small percentage...
6 KB (509 words) - 08:30, 9 October 2023
miR-1 regulates cardiac arrhythmogenic potential by targeting GJA1 and KCNJ2". Nature Medicine. 13 (4): 486–91. doi:10.1038/nm1569. PMID 17401374. S2CID 1935811...
147 KB (16,689 words) - 03:41, 2 September 2024
(2): 163–6. Kim, JB; Chung, KW (Dec 2009). "Novel de novo Mutation in the KCNJ2 gene in a Patient with Andersen-Tawil Syndrome". Pediatric Neurology. 41...
10 KB (1,263 words) - 21:29, 26 July 2024
responsible for the delayed rectifier potassium current IKs SQT3 609622 KCNJ2 Kir2.1 Encodes the potassium channel Kir2.1 responsible for the inward rectifying...
24 KB (2,508 words) - 12:33, 18 July 2024
via potassium channels: A mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome". The Journal of Physiology. 594 (12):...
173 KB (17,264 words) - 08:00, 8 May 2024
(myotonic muscular dystrophy: Type 1 and Type 2) Potassium channel disorders (KCNJ2) Andersen-Tawil syndrome Other disorders Thyroid disorders Neuromyotonia...
26 KB (3,125 words) - 04:49, 26 July 2024
involved with Andersen-Tawil syndrome (ATS). Ptáček's lab have identified KCNJ2 mutations to be potentially responsible for this syndrome, but due to the...
13 KB (1,413 words) - 15:28, 6 March 2024
603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; 611818; CAV3 Lowe syndrome; 309000; OCRL Lujan–Fryns...
234 KB (18,877 words) - 15:43, 9 May 2024
miR-1 regulates cardiac arrhythmogenic potential by targeting GJA1 and KCNJ2". Nature Medicine. 13 (4): 486–91. doi:10.1038/nm1569. PMID 17401374. S2CID 1935811...
28 KB (3,291 words) - 00:26, 15 June 2024