PMC9438967_01
(a) Pedigree of the proband. (b) The results of video EEG. Many 2- to 3-Hz sharp-slow wave and spike-slow wave complex paroxysms were detected on both sides when the patient was awake and asleep. (c) The control sequence (upper) and the mutant sequence (lower). (d) Conservation analysis of the amino acid in different species.
j_tnsci-2022-0241-fig001.jpg
PMC9438967_02_j_tnsci-2022-0241-fig001.jpg
j_tnsci-2022-0241_fig_001
The proband and family members I:1, I:2, II:1, and II:2 (Figure 1a) were enrolled after giving written consent. T (p.Arg933Cys) (Figure 1c) in family members I:1 and II:1, which was absent in family members I:2 and II:2. This variant was not present in 500 healthy controls and predicted to be deleterious by SIFT software and probably damaging by Polyphen-2 software, suggesting that this variant was responsible for the patients' phenotype. Conservation analysis showed that p.Arg933 was conserved in different species (Figure 1d).
PMC9438967_02
(a) Pedigree of the proband. (b) The results of video EEG. Many 2- to 3-Hz sharp-slow wave and spike-slow wave complex paroxysms were detected on both sides when the patient was awake and asleep. (c) The control sequence (upper) and the mutant sequence (lower). (d) Conservation analysis of the amino acid in different species.
j_tnsci-2022-0241-fig001.jpg
PMC9438967_02_j_tnsci-2022-0241-fig001.jpg
j_tnsci-2022-0241_fig_001
The proband and family members I:1, I:2, II:1, and II:2 (Figure 1a) were enrolled after giving written consent. T (p.Arg933Cys) (Figure 1c) in family members I:1 and II:1, which was absent in family members I:2 and II:2. This variant was not present in 500 healthy controls and predicted to be deleterious by SIFT software and probably damaging by Polyphen-2 software, suggesting that this variant was responsible for the patients' phenotype. Conservation analysis showed that p.Arg933 was conserved in different species (Figure 1d).