KCNQ2 encephalopathy typically presents with tonic seizures from the first week of life. The seizures can be frequent and often difficult to treat. Seizures...
5 KB (539 words) - 12:33, 15 February 2024
genetic causes of BFNE, two being the voltage-gated potassium channels KCNQ2 (BFNC1) and KCNQ3 (BFNC2) and the third being a chromosomal inversion (BFNC3)...
26 KB (2,574 words) - 21:37, 25 April 2024
and major depressive disorder. XEN1101 works by selectively opening the KCNQ2/3 (Kv7.2/Kv7.3) voltage-gated potassium channels via positive allosteric...
6 KB (525 words) - 13:03, 9 July 2024
protein encoded by this gene and one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, both integral membrane proteins. M channel currents are...
8 KB (1,096 words) - 23:36, 16 July 2024
include Kv7.1 (KCNQ1) - KvLQT1, Kv7.2 (KCNQ2), Kv7.3 (KCNQ3), Kv7.4 (KCNQ4), and Kv7.5 (KCNQ5). Four of these (KCNQ2-5) are expressed in the nervous system...
1 KB (120 words) - 07:27, 19 October 2023
Dupere JR, Cox B, Clare JJ, Burbidge SA (August 2000). "Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine". Molecular...
9 KB (831 words) - 06:28, 28 March 2024
molecular biology, the ankyrin-G binding motif of KCNQ2-3 is a protein motif found in the potassium channels KCNQ2 and KCNQ3. Interactions with ankyrin-G (ankyrin-3)...
4 KB (459 words) - 15:41, 16 June 2024
HGNC:6292 Q9UGI6 8050 KCNN4 HGNC:6293 O15554 8051 KCNQ1 HGNC:6294 P51787 8052 KCNQ2 HGNC:6296 O43526 8053 KCNQ3 HGNC:6297 O43525 8054 KCNQ4 HGNC:6298 P56696...
277 KB (17 words) - 15:46, 9 May 2024
conference. Butcher and James also founded KCNQ2 Cure. Since 2015, they have put together the annual KCNQ2 Cure New Horizons in Science Dinner to celebrate...
5 KB (524 words) - 13:25, 20 April 2023
cognition-enhancing drug with a novel mechanism of action. Linopirdine blocks the KCNQ2\3 heteromer M current with an IC50 of 2.4 micromolar disinhibiting acetylcholine...
6 KB (487 words) - 07:49, 8 May 2024
receptor antagonist WIP-DF17 – undefined mechanism of action [16] XEN1101 – KCNQ2/3 channel opener Casopitant – NK1 receptor antagonist Psilocybin – undefined...
28 KB (2,260 words) - 23:23, 28 July 2024
Dupere JR, Cox B, Clare JJ, Burbidge SA (August 2000). "Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine". Molecular...
19 KB (1,811 words) - 12:10, 18 December 2023
Shaw-related: Kv3.1 (KCNC1), Kv3.2 (KCNC2) Kvα7.x: Kv7.1 (KCNQ1) - KvLQT1, Kv7.2 (KCNQ2), Kv7.3 (KCNQ3), Kv7.4 (KCNQ4), Kv7.5 (KCNQ5) Kvα10.x: Kv10.1 (KCNH1) rapidly...
17 KB (1,769 words) - 15:18, 22 June 2024
can be associated with mutations in ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1, SCN8A, ST3GAL3, TBC1D24, BRAT1 and...
15 KB (1,472 words) - 11:42, 3 May 2024
stimulation on spines can increase cAMP-PKA-calcium signaling to open HCN, KCNQ2, and/or SK channels to rapidly weaken a connection, e.g. as occurs during...
34 KB (4,051 words) - 14:40, 14 June 2024
commonly KCNQ2 or KCNQ3 in self-limited neonatal epilepsy, PRRT2 or less commonly SCN2A or SCN8A in self-limited infantile epilepsy and SCN2A or KCNQ2 in self-limited...
39 KB (5,219 words) - 00:07, 18 June 2024
There are three known genetic causes of BFNE, two being in the channels KCNQ2 and KCNQ3. Brown DA, Adams PR (February 1980). "Muscarinic suppression of...
3 KB (377 words) - 12:42, 29 June 2024
neonatal, type 2; 121201; KCNQ3 Epilepsy, benign, neonatal, type 1; 121200; KCNQ2 Epilepsy, female-restricted, with mental retardation; 300088; PCDH19 Epilepsy...
234 KB (18,877 words) - 15:43, 9 May 2024
Shaw-related: Kv3.1 (KCNC1), Kv3.2 (KCNC2) Kvα7.x: Kv7.1 (KCNQ1) - KvLQT1, Kv7.2 (KCNQ2), Kv7.3 (KCNQ3), Kv7.4 (KCNQ4), Kv7.5 (KCNQ5) Kvα10.x: Kv10.1 (KCNH1) Kvα1...
19 KB (1,692 words) - 03:53, 29 November 2023
autosomal dominant manner. This condition is also caused due to mutation in KCNQ2 or KCNQ3 gene that may be carried by people bearing no family history of...
41 KB (4,791 words) - 07:09, 20 May 2024
variants encoding different isoforms have been found for this gene. ML213: KCNQ2/Q4 channel opener. Voltage-gated potassium channel GRCh38: Ensembl release...
9 KB (1,158 words) - 06:16, 29 January 2023
Adams DJ (Apr 20, 2007). "Regulation of the voltage-gated K(+) channels KCNQ2/3 and KCNQ3/5 by ubiquitination. Novel role for Nedd4-2". J. Biol. Chem...
27 KB (3,265 words) - 21:46, 27 March 2024
inhibit complexes formed by KCNQ1 and KCNE1. KCNE4 has no known effect on KCNQ2, KCNQ3 or KCNQ5 channels, but augments activity of KCNQ4 in HEK cells, mesenteric...
15 KB (1,987 words) - 21:08, 27 March 2024
channels formed with KCNQ1 and KCNE1. While reportedly not affecting KCNQ2, KCNQ2/3 or KCNQ5 channel activity, KCNE5 inhibits KCNQ4 in CHO cells but not...
14 KB (1,859 words) - 12:47, 17 January 2024
Lauritzen I, Barhanin J, Lazdunski M, Borsotto M (September 2000). "M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit". FEBS Letters...
27 KB (3,525 words) - 00:03, 17 July 2024
kcnq1 potassium channel MeSH D12.776.157.530.400.600.900.124.249.750 – kcnq2 potassium channel MeSH D12.776.157.530.400.600.900.124.249.875 – kcnq3 potassium...
52 KB (4,484 words) - 16:46, 9 February 2024
kcnq1 potassium channel MeSH D12.776.543.550.425.750.900.124.249.750 – kcnq2 potassium channel MeSH D12.776.543.550.425.750.900.124.249.875 – kcnq3 potassium...
121 KB (11,308 words) - 16:43, 9 February 2024