Early and effective treatment ofKCNQ2encephalopathy-Reference-Cited by-同舟云学术

Early and effective treatment ofKCNQ2encephalopathy

Published:2015-04-16 Issue:5 Volume:56 Page:685-691
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Pisano Tiziana¹,Numis Adam L.²,Heavin Sinéad B.³,Weckhuysen Sarah⁴⁵,Angriman Marco⁶,Suls Arvid⁴⁵,Podesta Barbara⁷,Thibert Ronald L.⁸,Shapiro Kevin A.²,Guerrini Renzo¹⁹,Scheffer Ingrid E.³,Marini Carla¹,Cilio Maria Roberta²¹⁰

Affiliation:

1. Neurology Unit and Laboratories; A. Meyer Children's Hospital; Florence Italy

2. Department of Neurology; University of California, San Francisco; San Francisco California U.S.A

3. Departments of Medicine and Paediatrics; Florey Institute; Austin Health and Royal Children's Hospital; University of Melbourne; Melbourne Victoria Australia

4. Neurogenetics Group; Department of Molecular Genetics; VIB; Antwerp Belgium

5. Laboratory of Neurogenetics; Institute Born-Bunge; University of Antwerp; Antwerp Belgium

6. Central Hospital of Bolzano; Bolzano Italy

7. Child Neurology and Psychiatry Unit; S. Croce and S. Carlo Hospital; Cuneo Italy

8. Pediatric Epilepsy Program; Massachusetts General Hospital; Harvard Medical School; Boston Massachusetts U.S.A

9. University of Florence; Florence Italy

10. Department of Pediatrics; University of California San Francisco; San Francisco California U.S.A

Funder

Italian Ministry of Health and Education and the National Health and Medical Research Council of Australia.

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.12984/fullpdf

Reference26 articles.

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3. De novo mutations in epileptic encephalopathies;Allen;Nature,2013

4. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies;EuroEPINOMICS-RES Consortium, Epi4K Consortium, Epilepsy Phenome/Genome Project;Am J Hum Genet,2014

5. Benign familial neonatal convulsions linked to genetic markers on chromosome 20;Leppert;Nature,1989

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