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%) |