PMC8669891_01
Pedigree of the family in which the p.Lys1505Gln variant in the SCN1A gene segregates with GEFS+. Black symbols denote homozygous patients, and dotted symbols denote obligate or confirmed heterozygous healthy carriers. Gray symbols denote patients with FS or FS+.
fneur-12-784892-g0001.jpg
PMC8669891_02_fneur-12-784892-g0001.jpg
F1
Patient 2 is a 35-month-old male, the brother of Patient 1 (see Figure 1).
PMC8669891_02
Pedigree of the family in which the p.Lys1505Gln variant in the SCN1A gene segregates with GEFS+. Black symbols denote homozygous patients, and dotted symbols denote obligate or confirmed heterozygous healthy carriers. Gray symbols denote patients with FS or FS+.
fneur-12-784892-g0001.jpg
PMC8669891_02_fneur-12-784892-g0001.jpg
F1
Patient 2 is a 35-month-old male, the brother of Patient 1 (see Figure 1).
Schematic representation of the SCN1A gene mutations detected in the 12 patients.
fneur-12-784892-g0002.jpg
PMC8669891_02_fneur-12-784892-g0002.jpg
F2
This variant has not been previously described. The variant is located between the repeat Domains III and IV at the cytoplasmic domain (see Figure 2).