Key clinical features to identify girls with CDKL5 mutations-Reference-Cited by-同舟云学术

Key clinical features to identify girls with CDKL5 mutations

Published:2008-09-12 Issue:10 Volume:131 Page:2647-2661
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Bahi-Buisson Nadia¹²³⁴,Nectoux Juliette⁵⁶⁷,Rosas-Vargas Haydeé⁵⁶,Milh Mathieu⁸,Boddaert Nathalie¹²³,Girard Benoit⁷,Cances Claude⁹,Ville Dorothée¹⁰,Afenjar Alexandra¹¹,Rio Marlène¹²,Héron Delphine¹³,N'Guyen Morel Marie Ange¹⁴,Arzimanoglou Alexis¹⁰,Philippe Christophe¹⁵,Jonveaux Philippe¹⁵,Chelly Jamel⁵⁶⁷,Bienvenu Thierry⁵⁶⁷

Affiliation:

1. Pediatric Neurology, Department of Pediatrics, Necker Enfants Malades Hospital, AP-HP, Paris V

2. INSERM, U663; Paris Descartes University

3. Paris Descartes University, Paris V

4. Reference Centre for Epilepsies, Necker Enfants Malades Hospital, AP-HP

5. Cochin Institute, Paris Descartes University, CNRS (UMR 8104)

6. INSERM, U567

7. Assistance Publique - Paris Hospitals, Cochin Hospital, Laboratory of Biochemistry and Molecular Genetics, Paris

8. Inmed, INSERM U29, Luminy Science Park, Marseille

9. Unit of Pediatric Neurology, Children's; Hospital, Toulouse

10. Pediatric Neurology, Centre Hospitalo-Universitaire de Lyon, Lyon

11. Pediatric Neurology, Trousseau Hospital, AP-HP

12. Genetics Department, Necker Enfants Malades Hospital, AP-HP, Paris V

13. Department of Genetics, Pitié Salpêtrière Hospital, Paris

14. Department of Paediatrics, Centre of Language and Learning Disorders, Centre Hospitalo-Universitaire, Grenoble

15. Laboratory of Medical Genetics, EA 4002, Nancy-Brabois University, Vandoeuvre the Nancy, France

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/131/10/2647/24475358/awn197.pdf

Reference26 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlate with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. CDKL5 mutations cause infantile spasms, early onset seizures and severe mental retardation in female patients;Archer;J Med Genet,2006

3. The three stages of epilepsy in patients with CDKL5 mutations;Bahi-Buisson;Epilepsia,2008

4. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation;Bertani;J Biol Chem,2006

5. Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized;Bienvenu;Nat Rev Genet,2006

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