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Summary of the results
| Result | # (%) |
|---|---|
| Age of onset 3-4 years |
(8/18; 45%) |
| Consanguinity |
17/18 (95%) |
| One tribe |
13/18 (72%) |
| Saudi |
18/18 (100%) |
| c.1264 A>G (p.T422A) mutation in exon 5 of SLC19A3 gene |
15/15 (100%) |
| SAE, ataxia triggered by febrile illness |
18/18 (100%) |
| Seizure |
13/18 (72%) |
| Mild-moderate neurological deficit mainly speech and motor |
6/18 (33%) |
| Normal |
6/18 (33%) |
| Spastic quadriplegic |
2/18 (11%) |
| Death | 4/18 (22%) |
