DISEASES

Disease-gene associations mined from literature

Literature associating KCNQ2 and autosomal dominant nocturnal frontal lobe epilepsy

KCNQ2 [ENSP00000352035]

Potassium voltage-gated channel subfamily KQT member 2; Associates with KCNQ3 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. Therefore, it is important in the regulation of neuronal excitability. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991, and activated by the anticonvulsant retigabine (PubMed:9836639, PubMed:11572947, PubMed:14534157, PubMed:12742592, PubMed:17872363). As the native M-channel, the potassium channel composed of KCNQ2 and KCNQ3 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1 . ECO:0000269|PubMed:11572947, ECO:0000269|PubMed:12742592, ECO:0000269|PubMed:14534157, ECO:0000269|PubMed:17872363,; Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.2/KCNQ2 sub-subfamily.

Synonyms:  KCNQ2,  KCNQ2p,  hKCNQ2,  A0A0D9SEV1,  A0A0D9SF10 ...

Linkouts:  STRING  Pharos  UniProt  OMIM