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Neurology. 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.

Author information

1
From the University of California (A.L.N., J.E.S., M.R.C.), San Francisco; Central Hospital of Bolzano (M.A.), Italy; Kaiser Permanente of Northern California (A.J.L.); University of Genoa (P.S.), "G. Gaslini" Institute, Italy; and Paris-Descartes University, Hôpital Necker-Enfants Malades (R.N.), Paris, France.

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.

PMID:
24371303
PMCID:
PMC3929196
DOI:
10.1212/WNL.0000000000000060
[Indexed for MEDLINE]
Free PMC Article

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