PMC9479181_01
(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.
fped-10-931667-g001.jpg
PMC9479181_02_fped-10-931667-g001.jpg
F1
SATB1 (NM_001195470.2). Sanger sequencing confirmed the variant as well as the wild-type status of her father and mother (Figure 1B).
Electroencephalogram of the patient showed only scarce sharp waves during sleep at age seven after anti-epileptic drug treatment.
fped-10-931667-g002.jpg
PMC9479181_01_fped-10-931667-g002.jpg
F2
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).
PMC9479181_02
(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.
fped-10-931667-g001.jpg
PMC9479181_02_fped-10-931667-g001.jpg
F1
SATB1 (NM_001195470.2). Sanger sequencing confirmed the variant as well as the wild-type status of her father and mother (Figure 1B).