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]

NA – data not available