Timothy syndrome type 1 (TS1) is caused by a pathogenic variant in CACNA1C, affecting the L-type voltage-gated calcium channel Ca V1.2 and leading to multiple organ system involvement and neuropsychiatric conditions.
TS1-derived neurons display abnormal CACNA1C splice form levels and defects in cortical interneuron migration, affecting brain functions significantly.
Collection
[
|
...
]