Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome-Reference-Cited by-同舟云学术

Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

Published:2015-07-30 Issue:2 Volume:89 Page:198-204
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Dimassi S.¹²³⁴⁵,Labalme A.¹,Ville D.⁶,Calender A.³⁷,Mignot C.⁸⁹,Boutry‐Kryza N.²³⁷,de Bellescize J.¹⁰,Rivier‐Ringenbach C.¹¹,Bourel‐Ponchel E.⁹,Cheillan D.³¹²,Simonet T.¹³,Maincent K.¹⁴,Rossi M.¹²,Till M.¹,Mougou‐Zerelli S.⁴⁵,Edery P.¹²³,Saad A.⁴⁵,Heron D.⁸¹⁵,des Portes V.⁶⁷¹⁶,Sanlaville D.¹²³,Lesca G.¹²³

Affiliation:

1. Department of Medical GeneticsLyon University Hospital Lyon France

2. CNRS UMR 5292, INSERM U1028CNRL Lyon France

3. Claude Bernard Lyon I UniversityUniversity of Lyon Lyon France

4. Cytogenetics and Reproductive Biology DepartmentFarhat Hached University Teaching Hospital Sousse Tunisia

5. Common Service Units for Research in Genetics, Faculty of Medicine of SousseAvenue Mohamed Karoui, University of Sousse Tunisia

6. Department of NeuropediatricsLyon University Hospital Lyon France

7. Department of Molecular GeneticsLyon University Hospital Lyon France

8. Département de Génétique et Centre de Référence “Déficiences intellectuelles de causes rares”AP‐HP, Groupe Hospitalier Pitié‐Salpêtrière Paris France

9. Department of Pediatric NeurophysiologyAmiens University Hospital Amiens France

10. Epilepsy, Sleep and Pediatric Neurophysiology DepartmentLyon University Hospital Lyon France

11. Department of PediatricsNord‐Ouest Hospital Villefranche‐sur‐Saone France

12. Service des Maladies Héréditaires du métabolisme, INSERM U1060Lyon University Hospital Lyon France

13. Department of Cell Biotechnology, ENS LyonLyon University Hospital Lyon France

14. Department of Pediatric Neurology, Hôpital TrousseauAssistance Publique des Hôpitaux de Paris Paris France

15. GRC‐Génétique des Déficiences Intellectuelles de Causes raresUniversité Pierre et Marie Curie Paris France

16. Reference Center for Tuberous Sclerosis and Rare Epileptic SyndromesLyon University Hospital Lyon France

Funder

High Throughput sequencing and rare disease

Fondation Maladies Rares

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12636

Reference23 articles.

1. Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013

2. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

3. De novo mutations in epileptic encephalopathies

4. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

5. NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

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