DISEASES

Disease-gene associations mined from literature

Literature associating KCNQ2 and benign epilepsy with centrotemporal spikes

KCNQ2 [ENSP00000352035]

Neuroblastoma-specific potassium channel subunit alpha KvLQT2; 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. As the native M-channel, the potassium channel composed of KCNQ2 and KCNQ3 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1; Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.2/KCNQ2 sub-subfamily.

Synonyms:  KCNQ2,  KCNQ2p,  hKCNQ2,  KCNQ2-001,  KCNQ2-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM