Table 1.
Ranking of clinical features specific for Glut1DS (question 2)
| Clinical feature specific for Glut1DS that warrants lumbar puncture and SLC2A1 analysis | Isolated | In combination |
|---|---|---|
| Paroxysmal eye‐head movements in infancy | 12/13 (92%) | 0/13 (0%) |
| Early‐onset absence epilepsy <4 y of age | 10/13 (77%) | 3/13 (23%) |
| Any complex movement disorder with spasticity, dystonia, ataxia as predominant features | 6/13 (46%) | 7/13 (54%) |
| Effective seizure control by KDT in children with drug‐resistant epilepsy | 6/13 (46%) | 7/13 (54%) |
| Myotonic‐atonic epilepsy (Doose syndrome) | 6/13 (46%) | 6/13 (46%) |
| Unexplained paroxysmal events (any age) | 5/13 (38%) | 8/13 (62%) |
| Early‐onset drug‐resistant childhood epilepsy unresponsive to antiseizure medication | 4/13 (31%) | 9/13 (69%) |
| Alternating hemiplegia | 2/13 (15%) | 10/13 (77%) |
| Stroke‐like episodes | 2/13 (9%) | 9/13 (69%) |
| Developmental delay otherwise unexplained | 0/13 ( 0%) | 12/13 (92%) |
The potential to support the diagnosis of Glut1DS as either an isolated or combined clinical sign is shown as percentage of total (13 centers). Total numbers do not always add up to n = 13 as some questions were not answered by all centers.