De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

Elizabeth E. Palmer,Till Stuhlmann,Stefanie Weinert,Eric Haan,H. Van Esch,Maureen Holvoet,Jackie Boyle,Melanie Leffler,Martine Raynaud,Claude Moraine,H. van Bokhoven,Tjitske Kleefstra,Kimia Kahrizi,Hossein Najmabadi,Hans-Hilger Ropers,Mauricio R. Delgado,Deepa Sirsi,Sailaja Golla,A. Sommer,M. P. Pietryga,Wendy K. Chung,J. Wynn,Luis Rohena,E. Bernardo,D. Hamlin,B. M. Faux,Dorothy K. Grange,Linda Manwaring,John Tolmie,Shelagh Joss,Jan Maarten Cobben,Floor A.M. Duijkers,J. M. Goehringer,T. D. Challman,Friederike Hennig,Utz Fischer,Astrid Grimme,Vanessa Suckow,Luciana Musante,Jillian Nicholl,Marie Shaw,S. P. Lodh,Zhiyv Niu,Jill A. Rosenfeld,Pawel Stankiewicz,Thomas J. Jentsch,Jozef Gecz,Michael Field,Vera M. Kalscheuer

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

2018

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

Keywords:

Genetics
Psychopharmacology
Genetic linkage
Seizure Disorders
Schizophrenia
Behavioral medicine
Intellectual disability
Gene
Dementia
Medicine
Frameshift mutation
Movement disorders
Mood disorders
Missense mutation
Epilepsy

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