Table 2 Phenotype review of the patients with the variant p.Glu246Lys and p.Arg209His
No | Reference | Age/sex | Initial symptom (onset age) | Epilepsy (onset age) | Movement disorder (onset age) | Max motor achievement | Max speech achievement | Brain MRI |
|---|---|---|---|---|---|---|---|---|
p.Glu246Lys | ||||||||
1 | This report (patient 2) | M/7.2 y | Hypotonia (3 m) | None | Chorea, dystonia (2 y) | None | None | Atrophy of bilateral head of caudate nucleus (6 y) |
2 | Saitsu7 | F/13 y | Developmental delay (4 m) | None | Severe athetosis (NA) | None | None | Normal (12 y) |
3* | Ananth6 | M/5.5 y | Hypotonia (3 m) | None | Chorea (4 y) | None | None | Normal (12 m) |
4* | Ananth6 | F/5.5 y | Hypotonia (3 m) | None | Chorea (4 y) | None | None | Global atrophy (5.5 y) |
5 | Ananth6 | F/10.3 y | Hypotonia (6 m) | None | Chorea (4 y) | None | None | Global atrophy, T2 hypointensity in globus pallidi (9 y) |
6 | Ananth6 | M/15 y | Hypotonia (5 m) | None | Chorea (4 y) | None | None (simple non-verbal communication) | T2 hypointensity in globus pallidi (14 y) |
7† | Schorling4 | M/8 y | Myoclonic twitching (1 m) | None | Myoclonus (1 m), Dystonia (2 y) | None | NA | Normal (18 m) |
8† | Schorling4 | F/3 y | Developmental delay (5 m) | Focal epilepsy (7 m) | Dystonia (NA) | Head control | NA | Atrophy, thin corpus callosum (2 y) |
p.Arg209His | ||||||||
1 | This report (patient 5) | F/7.7 y | Hypotonia (3 m) | None | Orofacial dyskinesia Chorea Focal dystonia Myoclonus (2 y) | Stand (regressed) | 50 words | Normal (5 y) |
2‡ | Kulkani2 | M/8 y | Hypotonia (18 m) | None | Sever Chorea Athetosis (34 m) | NA | NA | Normal (7 y) |
3‡ | Kulkani2 | M/6 y | Hyperkinesia (2 y) | None | Severe Chorea Athetosis (2 y) | NA | NA | Normal (6 y) |
4 | Ananth6 | M/16 y | Hypomotor (6 m) | Chorea (3 y) | Head control | Monosyllable words | Global atrophy (15 y) | |