KCNQ2 and KCNQ3-related epilepsy (Homo sapiens)

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Description

This pathway incorporates biological processes involved in KCNQ2- and KCNQ3-related epilepsies.

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Bibliography

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  51. Zybura AS, Sahoo FK, Hudmon A, Cummins TR; ''CaMKII Inhibition Attenuates Distinct Gain-of-Function Effects Produced by Mutant Nav1.6 Channels and Reduces Neuronal Excitability.''; Cells, 2022 PubMed Europe PMC Scholia
  52. Pan Y, Xiao Y, Pei Z, Cummins TR; ''S-Palmitoylation of the sodium channel Nav1.6 regulates its activity and neuronal excitability.''; J Biol Chem, 2020 PubMed Europe PMC Scholia
  53. Boczek NJ, Gomez-Hurtado N, Ye D, Calvert ML, Tester DJ, Kryshtal D, Hwang HS, Johnson CN, Chazin WJ, Loporcaro CG, Shah M, Papez AL, Lau YR, Kanter R, Knollmann BC, Ackerman MJ; ''Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.''; Circ Cardiovasc Genet, 2016 PubMed Europe PMC Scholia
  54. Wang JJ, Li Y; ''KCNQ potassium channels in sensory system and neural circuits.''; Acta Pharmacol Sin, 2016 PubMed Europe PMC Scholia
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History

View all...
CompareRevisionActionTimeUserComment
142318view13:14, 1 January 2026EgonwCorrect ChEBI identifier for GABA
142161view06:23, 7 December 2025EgonwBinding instead of conversion
142160view06:18, 7 December 2025EgonwAdded a missing identifier
142114view09:54, 2 December 2025DuanModified description
142113view09:43, 2 December 2025DuanModified description
141206view17:51, 6 November 2025EgonwMore unicode
140946view11:58, 30 October 2025DaraTsenovaupdates
140945view11:57, 30 October 2025DaraTsenovaupdates
140892view07:34, 30 October 2025EgonwRemoved duplicate descriptions
140891view07:34, 30 October 2025EgonwModified title
140890view07:33, 30 October 2025EgonwModified description
140802view02:12, 29 October 2025EweitzOntology Term : 'smooth muscle cell' added !
140801view02:12, 29 October 2025EweitzOntology Term : 'neuron' added !
140800view02:11, 29 October 2025EweitzOntology Term : 'cardiac muscle cell' added !
140789view22:55, 28 October 2025DaraTsenovaupdates
140769view12:29, 25 October 2025EgonwOntology Term : 'disease pathway' added !
140768view12:28, 25 October 2025EgonwMore unicode
140767view12:27, 25 October 2025EgonwModified description
140766view12:27, 25 October 2025EgonwRemoved duplicate descriptions
140745view14:05, 18 October 2025DaraTsenovaupdates
140744view14:03, 18 October 2025DaraTsenovaupdates
140718view11:27, 16 October 2025DaraTsenovaNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AKAP5GeneProductENSG00000179841 (Ensembl)
ANK3GeneProductENSG00000151150 (Ensembl)
BACE1GeneProductENSG00000186318 (Ensembl)
CALM1ProteinP0DP23 (Uniprot-TrEMBL)
CAMK2AGeneProductENSG00000070808 (Ensembl)
Calmodulin-1ProteinP0DP23 (Uniprot-TrEMBL)
Ca²⁺MetaboliteCHEBI:29108 (ChEBI)
DAG1ProteinQ14118 (Uniprot-TrEMBL)
FGF12GeneProductENSG00000114279 (Ensembl)
FGF13GeneProductENSG00000129682 (Ensembl)
GABAMetaboliteP14867 (ChEBI)
GIGYF1GeneProductENSG00000146830 (Ensembl)
GLUT3ProteinQ6DTY9 (Uniprot-TrEMBL)
IP3 MetaboliteCHEBI:16595 (ChEBI)
ITPR1GeneProductENSG00000150995 (Ensembl)
KCNQ1GeneProductENSG00000053918 (Ensembl)
KCNQ2GeneProductENSG00000075043 (Ensembl)
KCNQ3GeneProductENSG00000184156 (Ensembl)
KCNQ4GeneProductENSG00000117013 (Ensembl)
KCNQ5GeneProductENSG00000185760 (Ensembl)
Kv7.1ProteinP51787 (Uniprot-TrEMBL)
Kv7.2 ProteinO43526 (Uniprot-TrEMBL)
Kv7.2ProteinO43526 (Uniprot-TrEMBL)
Kv7.3ProteinO43525 (Uniprot-TrEMBL)
Kv7.4ProteinP56696 (Uniprot-TrEMBL)
Kv7.5Protein
Kv7.5ProteinQ9NR82 (Uniprot-TrEMBL)
NEDD4GeneProduct4734 (Entrez Gene)
NEDD4LGeneProductENSG00000049759 (Ensembl)
Nav1.2ProteinQ99250 (Uniprot-TrEMBL)
Nav1.6ProteinQ9UQD0 (Uniprot-TrEMBL)
Na⁺MetaboliteCHEBI:29101 (ChEBI)
PIP2MetaboliteCHEBI:18348 (ChEBI)
PKAProteinQ2VWB6 (Uniprot-TrEMBL)
PRKACAGeneProductENSG00000072062 (Ensembl)
PRKCEGeneProductPRKCE (HGNC)
PRRT2GeneProductENSG00000167371 (Ensembl)
RAB11AGeneProductENSG00000103769 (Ensembl)
RAB1AGeneProductENSG00000138069 (Ensembl)
SCN2AGeneProductENSG00000136531 (Ensembl)
SCN4BGeneProductENSG00000177098 (Ensembl)
SCN8AGeneProductENSG00000196876 (Ensembl)
SNAP25GeneProductENSG00000132639 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
TRAPPC2GeneProductENSG00000196459 (Ensembl)
TRAPPC3GeneProductENSG00000054116 (Ensembl)
TRAPPC6BGeneProductENSG00000182400 (Ensembl)
VAMP2ProteinF8WCA0 (Uniprot-TrEMBL)
glucoseMetaboliteCHEBI:17234 (ChEBI)
nPKCεProteinQ02156 (Uniprot-TrEMBL)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5599"
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