Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

TULIP1 (RALGAPA1) haploinsufficiency with brain development delay

(2009) Keiko Shimojima et al.   GENOMICS

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

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

XLMR genes: update 2007

(2008) Pietro Chiurazzi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Collybistin is required for both the formation and maintenance of GABAergic postsynapses in the hippocampus

(2008) Theofilos Papadopoulos et al.   MOLECULAR AND CELLULAR NEUROSCIENCE