KCNQ2-related epilepsies (WP5360)
Homo sapiens
KCNQ gene mutations are a common source for genetically caused epilepsies. KCNQ genes code for Kv7 subunits, which are required for Kv7 channels in the brain. These channels, also known as the M channels, are required for an outward potassium flow, known as the M current. Mutations in KCNQ genes and genes associated with Kv7 channel function can result in the impairment of this potassium flow. This leads to a constant state of depolarization in the neuron cells, which leads to increased excitabilty and a constant firing of action potentials, resulting in types of epilepsy.
Authors
B.T.J. van Dijl , Alex Pico , Egon Willighagen , Eric Weitz , and Friederike EhrhartActivity
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology
epilepsyPathway Ontology
disease pathway| Label | Type | Compact URI | Comment |
|---|---|---|---|
| cAMP | Metabolite | chebi:17489 | |
| PIP2 | Metabolite | chebi:18348 | |
| ACh | Metabolite | chebi:15355 | |
| K+ | Metabolite | chebi:29103 | |
| GABA | Metabolite | chebi:16865 | |
| IP3 | Metabolite | chebi:16595 | |
| Ca2+ | Metabolite | chebi:29108 | |
| Ang II | Metabolite | chebi:2719 | |
| KCNQ3 | GeneProduct | ensembl:ENSG00000184156 | |
| KCNQ2 | GeneProduct | ensembl:ENSG00000075043 | |
| PKA | GeneProduct | ensembl:ENSG00000072062 | |
| SCN1B | GeneProduct | ensembl:ENSG00000105711 | |
| ITPR1 | GeneProduct | ensembl:ENSG00000150995 | |
| AGTR1 | GeneProduct | ensembl:ENSG00000144891 | |
| CHRM1 | GeneProduct | ensembl:ENSG00000168539 | |
| BDKRB2 | GeneProduct | ensembl:ENSG00000168398 | |
| P2RY1 | GeneProduct | ensembl:ENSG00000169860 | |
| Kv7.2 | Protein | uniprot:O43526 | |
| Kv7.3 | Protein | uniprot:O43525 | |
| AKAP5 | Protein | uniprot:P24588 | |
| BACE1 | Protein | uniprot:P56817 | |
| Navβ1 | Protein | uniprot:O43525 | |
| PLC | Protein | uniprot:P16885 | |
| PKC | Protein | uniprot:P17252 | |
| PP1 | Protein | uniprot:Q96QC0 | |
| STX1A | Protein | uniprot:Q16623 | |
| CK2 | Protein | uniprot:P68400 | |
| PP2B | Protein | uniprot:P48454 | |
| ANK3 | Protein | uniprot:Q12955 | |
| CALM1 | Protein | uniprot:P0DP23 |
References
- PIP(2) activates KCNQ channels, and its hydrolysis underlies receptor-mediated inhibition of M currents. Zhang H, Craciun LC, Mirshahi T, Rohács T, Lopes CMB, Jin T, et al. Neuron. 2003 Mar 27;37(6):963–75. PubMed Europe PMC Scholia
- Inositol triphosphate-mediated Ca2+ signals direct purinergic P2Y receptor regulation of neuronal ion channels. Zaika O, Tolstykh GP, Jaffe DB, Shapiro MS. J Neurosci. 2007 Aug 15;27(33):8914–26. PubMed Europe PMC Scholia
- Modulation of voltage-gated K+ channels by the sodium channel β1 subunit. Nguyen HM, Miyazaki H, Hoshi N, Smith BJ, Nukina N, Goldin AL, et al. Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):18577–82. PubMed Europe PMC Scholia
- KCNQ potassium channels in sensory system and neural circuits. Wang J jing, Li Y. Acta Pharmacol Sin. 2016 Jan;37(1):25–33. PubMed Europe PMC Scholia
- Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis. Bouza AA, Philippe JM, Edokobi N, Pinsky AM, Offord J, Calhoun JD, et al. J Biol Chem. 2020 Jul 24;295(30):10380–93. PubMed Europe PMC Scholia
- Behavior of KCNQ Channels in Neural Plasticity and Motor Disorders. Singh SP, William M, Malavia M, Chu XP. Membranes (Basel). 2022 May 6;12(5):499. PubMed Europe PMC Scholia