Oxcarbazepine and carbamazepine may be effective in reducing seizures in newborns with KCNQ2 encephalopathy, providing Class IV evidence for this distinct electroclinical phenotype.
May support oxcarbazepine/carbamazepine in select KCNQ2 cases; leaves open need for controlled trials before practice change.
Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies.
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Numis et al. (2013) studied this question.
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