“…Through these domains, collybistin has been shown to interact with gephyrin, neuroligin-2, and the GABA A R α2 subunit, playing an important role in clustering of GABA A Rs at inhibitory synapses ( Saiepour et al, 2010 ). To this point, 18 patients have been described to have either point mutations, chromosomal rearrangements and deletions involving ARHGEF9 , with a range of manifestations including ASD ( Bhat et al, 2016 ; Machado et al, 2016 ), behavior disorders (ADHD, anxiety, aggression; Kalscheuer et al, 2009 ; Lesca et al, 2011 ), intellectual disability ( Kalscheuer et al, 2009 ; Lesca et al, 2011 ; Marco et al, 2011 ; Shimojima et al, 2011 ; de Ligt et al, 2012 ; Lemke et al, 2012 ), hyperekplexia ( Harvey et al, 2004 ; Marco et al, 2008 ), and infantile epilepsy ( Harvey et al, 2004 ; Kalscheuer et al, 2009 ; Lesca et al, 2011 ; Shimojima et al, 2011 ). The majority of patients identified are male, and those that are female have been shown to have a near complete X-inactivation in favor of the affected gene ( Marco et al, 2008 ; Kalscheuer et al, 2009 ).…”