Skip to main content
. Author manuscript; available in PMC: 2016 Dec 1.
Published in final edited form as: Am J Med Genet A. 2015 Sep 14;167(12):3096–3102. doi: 10.1002/ajmg.a.37353

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