Table 1 C215Y and G203R patients described in the literature. Patient 2 is the mother of patient 3. All other cases are de novo mutations
Pat. # | Sex | Nucleotide change | Amino acid change | Age of onset (age at publication) | Epilepsy | Movement disorder | Intellectual disability / developmental delay | Brain alterations (MRI) | Reference |
|---|---|---|---|---|---|---|---|---|---|
1 | M | c.644G > A | C215Y | 12y (42y) | No | Myoclonus dystonia | No | No | [9] |
2 | F | c.644G > A | C215Y | 5y (66y) | No | Non-progressive generalized dystonia, myoclonus, pyramidal syndrome | No | NA | [8] |
3 | M | c.644G > A | C215Y | 3y (31y) | No | Non-progressive generalized dystonia, myoclonus | Mild intellectual disability | No | [8] |
4 | F | c.607G > A | G203R | 7 m (8y) | Yes | Severe chorea, athetosis | Developmental delay | Delayed myelination, thin corpus calossum | [2] |
5 | F | c.607G > A | G203R | 7d (14 m) | Yes | Severe chorea | Developmental delay | Cerebral atrophy, delayed myelination | [5] |
6 | M | c.607G > A | G203R | 1 m (5y) | yes | Severe chorea, athetosis | Developmental delay | Progressive atrophy | [6] |
7 | F | c.607G > A | G203R | 3 m (6y) | Yes | Dyskinesia, dystonia | Motor developmental delay, intellectual disability | Progressive atrophy, thin corpus calossum | [7] |
8 | F | c.607G > A | G203R | 9d (4y) | Yes | Dyskinesia, dystonia | Motor developmental delay, intellectual disability | Mild atrophy | [7] |
9 | F | c.607G > A | G203R | 1d (3y) | Yes | Generalized hypotonia, mild dyskinesia, generalized dystonia, chorea | Severe neurodevelopmental delay | Thin corpus calossum | [1] |
10 | M | c.607G > A | G203R | 12d (5y) | Yes | Hypotonia, dyskinesia, hyperkinesia, status dystonicus, dystonia | Developmental delay | Hypomyelination, brain atrophy | [1] |