PMC9871926_01
(A) Facial aspect of patient 1 at the age of 6 years showing prominent forehead and hypertelorism. (B) Face of patient 2 at the age of 18 months. Prominent forehead, synophris, hypertelorism and mildly downward slanting palpebral fissures.
fneur-13-1113811-g0001.jpg
PMC9871926_02_fneur-13-1113811-g0001.jpg
F1
(A) Routine electrophalography (EEG) reveals focal sharp-waves (left, frontoparietal), rhythmic 6 Hz electrical activity and signs of focal cerebral dsfunction with a frontal theta-waves slow activity in the frontal area. (B) The EEG examination of patient 2. Frontotemporal sharp-wave complexes on the left side and rhythmical 4-5 Hz activity.
fneur-13-1113811-g0002.jpg
PMC9871926_02_fneur-13-1113811-g0002.jpg
F2
The EEG examination was pathological due to frontotemporal sharp-wave complexes on the left hemisphere and a rhythmic 4-5 Hz activity (Figure 2B).
Position of KPTN (NM007059.4) variants identified in this study (top), with respect to the affected exon. (Bottom) Reported pathogenic variants according to the literature.
fneur-13-1113811-g0003.jpg
PMC9871926_04_fneur-13-1113811-g0003.jpg
F3
A genetic investigation confirmed the presence of the homozygous variant c.599+1G>A in KPTN in both brothers (Figure 3).
PMC9871926_02
(A) Facial aspect of patient 1 at the age of 6 years showing prominent forehead and hypertelorism. (B) Face of patient 2 at the age of 18 months. Prominent forehead, synophris, hypertelorism and mildly downward slanting palpebral fissures.
fneur-13-1113811-g0001.jpg
PMC9871926_02_fneur-13-1113811-g0001.jpg
F1
(A) Routine electrophalography (EEG) reveals focal sharp-waves (left, frontoparietal), rhythmic 6 Hz electrical activity and signs of focal cerebral dsfunction with a frontal theta-waves slow activity in the frontal area. (B) The EEG examination of patient 2. Frontotemporal sharp-wave complexes on the left side and rhythmical 4-5 Hz activity.
fneur-13-1113811-g0002.jpg
PMC9871926_02_fneur-13-1113811-g0002.jpg
F2
The EEG examination was pathological due to frontotemporal sharp-wave complexes on the left hemisphere and a rhythmic 4-5 Hz activity (Figure 2B).
Position of KPTN (NM007059.4) variants identified in this study (top), with respect to the affected exon. (Bottom) Reported pathogenic variants according to the literature.
fneur-13-1113811-g0003.jpg
PMC9871926_04_fneur-13-1113811-g0003.jpg
F3
A genetic investigation confirmed the presence of the homozygous variant c.599+1G>A in KPTN in both brothers (Figure 3).
PMC9871926_03
Position of KPTN (NM007059.4) variants identified in this study (top), with respect to the affected exon. (Bottom) Reported pathogenic variants according to the literature.
fneur-13-1113811-g0003.jpg
PMC9871926_04_fneur-13-1113811-g0003.jpg
F3
A genetic investigation confirmed the presence of the homozygous variant c.599+1G>A in KPTN in both brothers (Figure 3).
PMC9871926_04
Position of KPTN (NM007059.4) variants identified in this study (top), with respect to the affected exon. (Bottom) Reported pathogenic variants according to the literature.
fneur-13-1113811-g0003.jpg
PMC9871926_04_fneur-13-1113811-g0003.jpg
F3
A genetic investigation confirmed the presence of the homozygous variant c.599+1G>A in KPTN in both brothers (Figure 3).