Patient / Sex/ age at onset, y / Consanguinity / Ethnic origin / Neurologic presentation / Seizures / MRI findings / Treatment / Outcome / SCL19A3
gene mutation
C / P / Other areas
1 [1] / F/5 / + / Saudi / Subacute encephalopathy / + / + / + / Cortex / Biotin / IQ:75. quadriparetic / c.1264ArG
2 [1] / F/3 / + / Saudi / Dystonia / - / + / + / - / Biotin / Normal / c.1264ArG
3 [1] / F/7 / + / Saudi / Subacute encephalopathy / - / + / + / - / Biotin / Normal / c.1264ArG
4 [1] / M/9 / + / Saudi / Subacute encephalopathy / + / + / + / - / Biotin / Normal / c.1264ArG
5 [1] / F/5 / + / Saudi / Subacute encephalopathy / + / + / + / - / Biotin / Dysarthria / Not done
6 [1] / M/1 / + / Yemeni / Dystonia
Loss of motor milestones / - / + / + / - / Biotin / Normal / c.68GrT
7 [1] / M/6 / + / Saudi / Acute hemiplegia
Dystonia / - / + / + / - / Biotin / IQ:85. Otherwise normal / c.1264ArG
8 [1] / M/14 / + / Syrian / Dystonia / - / + / + / - / Biotin / IQ: 60. Paraparetic / Not done
9 [1] / F/6 / + / Saudi / Acute encephalopathy / + / + / + / - / Biotin / IQ:85. Otherwise normal / Not done
10 [1] / F/7 / + / Yemeni / Acute encephalopathy / + / + / + / - / Biotin / IQ:69. Otherwise normal / Not done
11 [5] / F/1 / - / Lebanese / Tremor
Mild motor delay / + / + / + / - / Biotin / Minimal learning difficulties / Not done
12 [6] / F/8 / - / Indian / Subacute encephalopathy / + / + / + / - / Biotin / Mild dystonia / Not done
13 [7] / M/7 / - / Portuguese / Subacute encephalopathy / + / + / + / Cortex, thalami, and mesencephalon / Biotin / Dystonia of the upper limbs and face
Pyramidal signs / c.980-14 A>G
c.980-38dupA
c.74dupT
14 [7] / F/12 / - / Portuguese / Seizures
Dystonia / + / + / + / Cortex / Biotin + Thiamine / Dystonia
ataxia / c.980-14 A>G
c.980-38dupA
c.74dupT
C: Caudate, P: Putamen