De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

X-linked mental retardation: focus on synaptic function and plasticity

(2009) Yann Humeau et al.   JOURNAL OF NEUROCHEMISTRY

Increased network excitability and impaired induction of long-term potentiation in the dentate gyrus of collybistin-deficient mice in vivo

(2009) Peter Jedlicka et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Neuroligin 2 Drives Postsynaptic Assembly at Perisomatic Inhibitory Synapses through Gephyrin and Collybistin

(2009) Alexandros Poulopoulos et al.   NEURON

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation

(2008) Vera M. Kalscheuer et al.   HUMAN MUTATION