TABLE I.
Genomic and Clinical Features of Subjects With Familial Recurrences of FOXG1-Related Disorder
Subject | FOXG1 genotype | Sex | Age at time of study | Epilepsy | ID | Walking | Movements |
---|---|---|---|---|---|---|---|
DB12-017a1 | c.515_577del63/p.Gly172_Met192del | Female | 9 years 8 months | Complex partial | Yes | No | Hyperkinesis, with choreiform movements |
DB12-017a2 | c.515_577del63/p.Gly172_Met192del | Female | 6 years 19 months | None | Yes | No | Hyperkinesis, with choreiform movements |
DB13-029a1 | c.460dupG p.Glu154GlyfsX301 | Female | 25 years 10 months | Generalized tonic-clonic | Yes | No | Hypokinetic, with hand stereotypies and increased tone. |
DB13-029a2 | c.460dupG p.Glu154GlyfsX301 | Male | 22 years | Generalized tonic-clonic | Yes | No | Hypokinetic, with hand stereotypies and increased tone. |
DBL01-010a1 | c.572T > G p.Met191Arg | Female | 18 years | Absence | Yes | Yes | Hyperkinesis, with choreiform movements, dystonia |
DBL01-010a2 | c.572T > G p.Met191Arg | Female | 13 years | None | Mild | Yes | Hyperkinesis, with choreiform movements, dystonia |
DBL01-010a3 | c.572T > G p.Met191Arg | Male | 11 years | Absence | Yes | Yes | Hyperkinesis, with choreiform movements dystonia, orofacial dyskinesia |