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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.
Acknowledgment
The authors thank the patients and their families for participating in the study.
Footnotes
Supplemental data at www.neurology.org
Author contributions: A.L. Numis: drafted and revised the manuscript, analyzed and interpreted the electroclinical data. M. Angriman: recruited and evaluated the study subjects, participated in the analysis of electroclinical data, revised the manuscript. J.E. Sullivan: recruited and evaluated the study subjects, revised the manuscript. A.J. Lewis: recruited the study subjects, revised the manuscript. P. Striano: participated in the analysis of the electroclinical data, revised the manuscript. R. Nabbout: recruited and evaluated study subject, participated in the analysis of the electroclinical data, revised the manuscript. M.R. Cilio: designed and conceptualized the study, recruited the study subjects, supervised A.L.N., revised the manuscript.
Study funding: No targeted funding reported.
Disclosure: A. Numis serves on the editorial team for the Neurology® Resident & Fellow Section. M. Angriman, J. Sullivan, A. Lewis, P. Striano, R. Nabbout, and M.R. Cilio report no disclosures. Go to Neurology.org for full disclosures.
- Received June 2, 2013.
- Accepted in final form September 13, 2013.
- © 2014 American Academy of Neurology
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