Introduction:

the KCNQ2 gene encodes a subunit that forms potassium channels, found in neurons. These transmit electrical signals and thus the neurons do not remain constantly active. Mutations in it can trigger excessive neuronal excitability causing CNBF and/or EEP 7. These mutations are an emerging and little-known etiological diagnosis of neonatal epilepsy.

Objectives:

a clinical case presenting seizures in the neonatal stage and early detection of the KCNQ2 gene.

Clinical case:

we present the case of an 11-day-old neonate who consults due to home tonic-clonic episodes of the right upper limb associated with perioral cyanosis. Anticonvulsants are prescribed. Complementary studies are requested, which show altered polysomnography with seizure episodes and the genetic panel for early neonatal seizures: alteration of the KCNQ2 gene.

Conclusions:

knowing the causative genes and diagnosing them in time could have a high impact on the prognosis and treatment.

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