KCNQ2

KCNQ2, also known as Kv7.2, is a gene that encodes a voltage-gated potassium channel subunit. This subunit is a critical component of the KCNQ2/KCNQ3 potassium channel, which is primarily expressed in neurons in the brain and spinal cord. This channel plays a vital role in regulating neuronal excitability by contributing to the M-current, a slow, non-inactivating potassium current. The M-current helps to stabilize the resting membrane potential and dampen repetitive neuronal firing.

Mutations in the KCNQ2 gene are associated with a range of neurological disorders, most notably benign familial neonatal convulsions (BFNC). BFNC is an epilepsy syndrome that typically presents with seizures in the first few days of life. In more severe cases, KCNQ2 mutations can lead to developmental and epileptic encephalopathies, such as Ohtahara syndrome and severe infantile epileptic encephalopathy, which are characterized by severe seizures, profound intellectual disability, and often poor prognosis. The severity of the phenotype is dependent on the specific mutation and its impact on channel function. Research is ongoing to understand the precise mechanisms by which KCNQ2 dysfunction leads to epilepsy and to develop targeted therapies.