Timothy Syndrome (TS) is caused by very rare exonic mutations of the CACNA1C gene that produce delayed inactivation of Cav1.2voltage-gated calcium channels during cellular action potentials, with greatly increased influx of calcium into the activated cells. The major clinical feature of this syndrome is a long QT interval that results in cardiac arrhythmias. However, TS also includes cognitive impairment, autism, and major developmental delays in many of the patients. We observed the appearance of Bipolar Disorder (BD) in a patient with a previously reported case of TS, who is one of the very few patients to survive childhood. This is most interesting because the common SNP most highly associated with BD is rs1006737, which we show here is a cis-expression quantitative trait locus (eQTL) for CACNA1C in human cerebellum, and the risk allele (A) is associated with decreased expression. To combine the CACNA1C perturbations in the presence of BD in this patient and in patients with the common CACNA1C SNP risk allele, we would propose that either increase or decrease in calcium influx in excitable cells can be associated with BD. In treatment of BD with calcium channel blocking drugs (CCBs), we would predict better response in patients without the risk allele, because they have increased CACNA1C expression.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disorder characterized by prominent neuropsychiatric symptoms. Given the nature of its pathophysiology, psychiatrists tend to be one of the first clinicians encountering patients with the disease. In the current review of all patients described in the literature with psychiatric symptoms, we aimed to characterize the psychiatric symptomatology of the disease and its management in adults and children. A total of 544 patients fulfilled the inclusion criteria. We found that 77% of patients with NMDAR encephalitis presented initially with psychiatric symptoms. These were mostly commonly psychotic symptoms (in 62 %: especially disorganized behavior and visual/auditory hallucinations) and agitation (56%), with agitation even more commonly being the presenting symptom in children (66%). Where psychotic symptoms were detailed, visual (64%) and auditory (59%) hallucinations were the most common, as well as persecutory delusions. However delusions were not clearly characterized in most cases. Catatonia was described in 42% of adult patients and 35% of children. Of the patients with documented exposure to antipsychotics, 33% were suspected to have an adverse drug reaction notably neuroleptic malignant syndrome in 22% of the cases. Based on these findings, it is possible to important to raise the suspicion of anti-NMDAR encephalitis in patients with an acute onset psychosis, especially in association with agitation, catatonia, or adverse response to antipsychotics. Furthermore it is important to use antipsychotics with caution in patients with suspected or confirmed anti-NMDAR encephalitis.

There is widespread agreement among training directors on the importance of neuropsychiatry and neuroscience knowledge to general psychiatrists but barriers to training exist, including some programs that lack faculty resources and a dearth of portable curricula in these areas.