CDKL5 and choreatic disease: Mutations associated with chorea in DEE, as listed in the OMIM database, predominantly affect three categories of protein functions: ion channels (e.g., CACNA1E, FRRS1L, GABRA1, GABRA2, GABRG2, GRIN1, GRIN2B, GRIN2D, KCNB1, KCNQ2, KCNT1, SCN1A, SCN2A), protein transcription (e.g., SLC13A5, SLC38A3, SLC32A1), and enzymes/regulators (e.g., ALG13, ARV1, CDKL5, FBX028, GNAO1, RHOBTB2, TBC1D24, UGDH) [8, 10, 11, 62, 67–69, 73–75].