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. 2014 Jan 28;82(4):368-70.
doi: 10.1212/WNL.0000000000000060. Epub 2013 Dec 26.

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response

Adam L Numis  1 , Marco Angriman, Joseph E Sullivan, Ann J Lewis, Pasquale Striano, Rima Nabbout, Maria R Cilio
Affiliations

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response

Adam L Numis et al. Neurology. .

Abstract

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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References

    1. Nabbout R, Dulac O. Epilepsy genetics of early-onset epilepsy with encephalopathy. Nat Rev Neurol 2011;8:129–130 - PubMed
    1. Singh NA, Westenskow P, Charlier C, et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 2003;126:2726–2737 - PubMed
    1. Kato M, Yamagata T, Kubota M, et al. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 2013;54:1282–1287 - PubMed
    1. Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012;71:15–25 - PubMed
    1. Miles DK, Holmes GL. Benign neonatal seizures. J Clin Neurophysiol 1990;7:369–379 - PubMed