| | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 |
| | Variant | c.833_835del (p.K278del) | c.833_835del (p.K278del) | (p.S229R) | (p.G203R) | (p.S47R) | (p.R209C) | (p.E208Q) | (p.G184S) | | Current age | 8 years | 8 years | Deceased (8 months) | 2 years | Deceased (4 years) | 13 years | 9 years | 2 years | | Sex | F | F | F | F | M | M | M | M | | Age of onset | 2 d | 2 d | 8 d | 10 d | <2 months | First weeks | 1 d | 1 d | | Symptoms of onset | Seizure | Seizure | Seizure | Seizure | Seizure | Axial hypotonia and stiffness of limbs | Hypotonia and swallowing difficulties | Hypotonia, feeding difficulties | | Epilepsy | Yes | Yes | Yes | Yes | Yes | Yes | No | No | | DEE | Yes | Yes | Yes | Yes | Yes | No | No | No | | MD | Dystonia (8 years) | Dystonia (8 years) | No | Choreoathetosis dystonia (intermittent paroxysmal) | No | Spasticity and dystonia. Recurrent status dystonicus despite medication. | Dystonia | No | | Axial hypotonia | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | | Treatment | | | | | | | | | | Epilepsy | TP, DPK, CNZ, LEV | PB (seizure free) | | LEV, CBZ, PB, and CLB | LEV, PB, CBZ, VA, PN, VGB, MDZ, LTG, and TPM | VPA | | | | DRE | Seizure free | DRE | Seizure free | DRE | Seizure free | | | | MD | No | No | No | DZP, LVD, CH, GBP, CND, and BCF | | GBP, LEV, BCF, and CLB | GBP and CNZ | | | | | | | Since deep brain stimulation, no more hospital admissions for status dystonicus | | | | MRI | 2 weeks: no abnormalities | 2 weeks: no abnormalities | No abnormalities | No abnormalities | 2 months: no abnormalities | 7 and 11 years: at 11 years compared to 7 years mild widening of the ventricular width and subarachnoid space | 5 months, 17 months, and 8 years: stable, aspecific T2 hyperintensities near occipital horn right and bilateral frontally. | |
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