Vera M Kalscheuer Luciana Musante Cheng Fang Kirsten Hoffmann Celine Fuchs Eloisa Carta Emma Deas Kanamarlapudi Venkateswarlu Corinna Menzel Reinhard Ullmann Niels Tommerup Leda Dalprà Andreas Tzschach Angelo Selicorni Bernhard Lüscher Hans-Hilger Ropers Kirsten Harvey Robert J Harvey
10.1002/humu.20814
Hum Mutat
2009 Jan;30(1):61-8.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/18615734/
Anxiety / genetics Epilepsy / genetics Guanine Nucleotide Exchange Factors / genetics Intellectual Disability / genetics Translocation, Genetic
Anxiety / genetics Epilepsy / genetics Guanine Nucleotide Exchange Factors / genetics Intellectual Disability / genetics Translocation, Genetic Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adolescent Aggression Amino Acid Sequence Base Sequence Carrier Proteins / metabolism Cells, Cultured Female Humans Membrane Proteins / metabolism Molecular Sequence Data RNA, Messenger / metabolism Receptors, GABA-A / metabolism Receptors, Glycine / genetics Receptors, Glycine / metabolism Rho Guanine Nucleotide Exchange Factors ARHGEF9 protein, human Carrier Proteins Guanine Nucleotide Exchange Factors Membrane Proteins RNA, Messenger Receptors, GABA-A Receptors, Glycine Rho Guanine Nucleotide Exchange Factors gephyrin
PMC3621145
18615734
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation
2009