Seizure threshold 2 protein homolog gene (SZT2, MIM: 615463) is located on Chr1 p34.2. It is mainly expressed in the parietal lobe, frontal cortex, hippocampus, cerebellum and dorsal root ganglia of the central nervous system, and encodes a 3375 amino acid protein [1]. SZT2 protein is located in the lysosome and (together with KPTN, ITFG2, and C12orf66) forms the KICSTOR protein complex [2], which is a negative regulator of the rapamycin complex signaling pathway [3,4]. The over-activation of the rapamycin complex signaling pathway is widely recognized in the etiology of nervous system diseases such as epilepsy, global developmental delay (GDD), and megacephaly [2–4].
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