Rare Missense Mutations in the Calcium Channel β2 Subunit of Autistic Patients

Calcium channels are crucially involved in brain development and neuronal function. Mutations in the pore-forming Cav subunits of high- and low-voltage dependent calcium channels (VDCC) have been found in patients with autistic syndromes (Splawski et al., Cell 2004;119:19-31; Splawski et al., PNAS 2005;102:8089-96; Splawski et al., JBC 2006;281:22085-91). In Timothy syndrome, the G406R mutation of Cav1.2 results in a reduction of inactivation...