Infantile spasms and encephalopathy without preceding neonatal seizures caused byKCNQ2R198Q, a gain-of-function variant-Reference-Cited by-同舟云学术

Infantile spasms and encephalopathy without preceding neonatal seizures caused byKCNQ2R198Q, a gain-of-function variant

Published:2016-11-09 Issue:1 Volume:58 Page:e10-e15
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Millichap John J.¹^ORCID,Miceli Francesco²,De Maria Michela³,Keator Cynthia⁴,Joshi Nishtha⁵,Tran Baouyen⁵,Soldovieri Maria Virginia³,Ambrosino Paolo³,Shashi Vandana⁶,Mikati Mohamad A.⁶,Cooper Edward C.⁵,Taglialatela Maurizio²³

Affiliation:

1. Epilepsy Center and Division of Neurology; Departments of Pediatrics and Neurology; Ann & Robert H. Lurie Children's Hospital of Chicago; Northwestern University Feinberg School of Medicine; Chicago Illinois U.S.A

2. Department of Neuroscience; University of Naples “Federico II”; Naples Italy

3. Department of Medicine and Health Science; University of Molise; Campobasso Italy

4. Jane and John Justin Neurosciences Center; Cook Children's Hospital; Fort Worth Texas U.S.A

5. Departments of Neurology, Neuroscience, Molecular, and Human Genetics; Baylor College of Medicine; Houston Texas U.S.A

6. Division of Neurology; Department of Pediatrics; Duke University School of Medicine; Durham North Carolina U.S.A

Funder

American Epilepsy Society

The Jack Pribaz Foundation

National Institutes of Health

Fondazione Telethon

Ministero dell’Istruzione, dell’Università e della Ricerca

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.13601/fullpdf

Reference20 articles.

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2. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy;Weckhuysen;Ann Neurol,2012

3. KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine treatment of 11 patients;Millichap;Neurol Genet,2016

4. Driving with no brakes: molecular pathophysiology of Kv7 potassium channels;Soldovieri;Physiology,2011

5. Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits;Miceli;Proc Natl Acad Sci USA,2013

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