Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients-Reference-Cited by-同舟云学术

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Published:2016-07-30 Issue:5 Volume:4 Page:568-580
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

de Kovel Carolien G.F.¹^ORCID,Brilstra Eva H.¹,van Kempen Marjan J.A.¹,van‘t Slot Ruben¹,Nijman Isaac J.¹,Afawi Zaid²³,De Jonghe Peter⁴⁵⁶,Djémié Tania⁴⁵,Guerrini Renzo⁷,Hardies Katia⁴⁵,Helbig Ingo⁸⁹,Hendrickx Rik⁴,Kanaan Moine¹⁰,Kramer Uri¹¹,Lehesjoki Anna-Elina E.¹²,Lemke Johannes R.¹³,Marini Carla⁷,Mei Davide⁷,Møller Rikke S.¹⁴¹⁵,Pendziwiat Manuela⁹,Stamberger Hannah⁴⁵,Suls Arvid⁴⁵,Weckhuysen Sarah⁴⁵,Koeleman Bobby P.C.¹,

Affiliation:

1. Department of Genetics; UMC Utrecht; Utrecht The Netherlands

2. Tel Aviv Sourasky Medical Center; 6 Weizmann St. Tel Aviv Israel

3. Genetics of Epilepsy Research in Israel Tel-Aviv University Medical School; Tel-Aviv Israel

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

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

6. Division of Neurology; Antwerp University Hospital; Antwerp Belgium

7. Neuroscience Department; Children's Hospital Anna Meyer; University of Florence; Florence Italy

8. Division of Neurology; The Children's Hospital of Philadelphia; Philadephia Pennsylvania

9. Department of Neuropediatrics; University Medical Center Schleswig-Holstein; Christian Albrechts University; Kiel Germany

10. Pediatric Epilepsy Unit; Tel Aviv Sourasky Medical Center; Tel Aviv University; Tel Aviv Israel

11. Department of Life Sciences; Bethlehem University; Bethlehem Palestine

12. Folkhälsan Institute of Genetics; Neuroscience Center and Research Programs Unit; Molecular Neurology; University of Helsinki; Helsinki Finland

13. Institute of Human Genetics; University of Leipzig Hospitals and Clinics; Leipzig Germany

14. Danish Epilepsy Centre - Filadelfia; Dianalund Denmark

15. Institute for Regional Health Services; University of Southern Denmark; DK-5230 Odense Denmark

Funder

Euroepinomics-RES

Fonds Wetenschappelijk Onderzoek

Interstitial Cystitis Association

Dutch Epilepsy Foundation

EuroEPINOMICS

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference51 articles.

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4. Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum;Basel-Vanagaite;Am. J. Hum. Genet.,2013

5. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene;Caliebe;Eur. J. Med. Genet.,2010

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