Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females-Reference-Cited by-同舟云学术

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

Published:2009-02-13 Issue:2 Volume:5 Page:e1000381
ISSN:1553-7404
Container-title:PLoS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Depienne Christel,Bouteiller Delphine,Keren Boris,Cheuret Emmanuel,Poirier Karine,Trouillard Oriane,Benyahia Baya,Quelin Chloé,Carpentier Wassila,Julia Sophie,Afenjar Alexandra,Gautier Agnès,Rivier François,Meyer Sophie,Berquin Patrick,Hélias Marie,Py Isabelle,Rivera Serge,Bahi-Buisson Nadia,Gourfinkel-An Isabelle,Cazeneuve Cécile,Ruberg Merle,Brice Alexis,Nabbout Rima,LeGuern Eric

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics(clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference31 articles.

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3. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.;J Tao;Am J Hum Genet,2004

4. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.;P Stromme;Nat Genet,2002

5. SRPX2 mutations in disorders of language cortex and cognition.;P Roll;Hum Mol Genet,2006

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