case_images: PMC9479181_01
case_images: (A) Facial features and dental abnormalities are not recognizable in the patient. (B) Sanger sequencing of the variant in the pedigree and location of the variant in the gene.
case_images: fped-10-931667-g001.jpg
case_images: PMC9479181_02_fped-10-931667-g001.jpg
case_images: F1
case_images: SATB1 (NM_001195470.2). Sanger sequencing confirmed the variant as well as the wild-type status of her father and mother (Figure 1B).
case_images: Electroencephalogram of the patient showed only scarce sharp waves during sleep at age seven after anti-epileptic drug treatment.
case_images: fped-10-931667-g002.jpg
case_images: PMC9479181_01_fped-10-931667-g002.jpg
case_images: F2
case_images: No seizures or other epileptic activity were noticed, and the electroencephalogram at the age of seven showed only scarce sharp waves during sleep (Figure 2).
case_images: PMC9479181_02
case_images: (A) Facial features and dental abnormalities are not recognizable in the patient. (B) Sanger sequencing of the variant in the pedigree and location of the variant in the gene.
case_images: fped-10-931667-g001.jpg
case_images: PMC9479181_02_fped-10-931667-g001.jpg
case_images: F1
case_images: SATB1 (NM_001195470.2). Sanger sequencing confirmed the variant as well as the wild-type status of her father and mother (Figure 1B).