Specific abnormalities at the cellular level have also been linked to CNVs. Mice lacking neurexin-1α have defects in synaptic calcium channel function and neurotransmitter release (Missler et al., 2003). Mice lacking Shank3 have defects in striatal synapses and cortico-striatal circuits (Peca et al., 2011). Mice lacking Cntnap2 exhibit neuronal migration abnormalities, reduced number of interneurons, and abnormal neuronal network activity (Penagarikano et al., 2011). Furthermore, temporal lobe sections from human subjects lacking Cntnap2 display abnormal patterns of neuronal migration (Strauss et al., 2006).
