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DEE7

Chr 20AD

potassium voltage-gated channel subfamily Q member 2

Also known as: BFNC, DEE7, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2

NCBI Gene: 3785 OMIM: 613720

This gene encodes a subunit of the M channel, a slowly activating and deactivating potassium channel that regulates neuronal excitability by forming complexes with KCNQ3. Mutations cause developmental and epileptic encephalopathy 7, which presents in the neonatal period as part of the spectrum that includes benign familial neonatal convulsions. The condition follows autosomal dominant inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…