Patient | Current Age (years) | Age at presentation | Resolved at (years) | Focal/Diffuse | Mutation | Maximum Medication dose | Current Medication dose | Feeding method | Neurodevelopment |
---|---|---|---|---|---|---|---|---|---|
#1 | 5.3 | Neonate | 2.6 | Diffuse | Compound heterozygous ABCC8 | DZX 5Â mg/kg/d | 0 | Orally | Speech delay |
#2 | 9.3 | Neonate | 3.5 | Diffuse | Maternal KCNJ11 | DZX 10Â mg/kg/d | 0 | Gastrostomy (4Â years) | Speech delay |
#3 | 16.6 | Neonate | 13 | Diffuse | de novo ABCC8 | DZX 7Â mg/kg/d | 0 | Orally | Normal |
#4 | 9.4 | Neonate | 0.7 | Diffuse | Maternal ABCC8 | DZX 9.2Â mg/kg/d | 0 | Orally | Seizures at presentation, behavioural problems |
#5 | 4.3 | Neonate | 3.1 | Diffuse | Maternal ABCC8 | DZX 7.1Â mg/kg/d | 0 | Orally | Normal |
#6 | 0.7 | Neonate | 0.4 | Diffuse | Paternal ABCC8 | DZX 5Â mg/kg/d | 0 | Orally | Normal |
#7 | 6.7 | Day 2 | 0.5 | Diffuse | Maternal ABCC8 | DZX 5Â mg/kg/d | 0 | Orally | Epilepsy, motor delay, coordination problems |
#8 | 2.7 | Day 2 | 0.2 | Diffuse | Maternal ABCC8 | DZX 5Â mg/kg/d | 0 | Orally | Normal |
#9 | 7.2 | Day 1 | 6 | Diffuse | Homozygous ABCC8 | OCT 18.5 mcg/kg/d; Somatuline 60Â mg 4-7 weekly | 0 | Gastrostomy (2.5Â years) | Normal |
#10 | 2.7 | Day 1 | 1.6 | Focal | Paternal KCNJ11 | OCT 15 mcg/kg/d | 0 | Gastrostomy (1.3Â years) | Normal |
#11 | 10.9 | 8Â months | 6.6 | Focal | Paternal ABCC8 | OCT 19 mcg/kg/d | 0 | Orally | Normal |
#12 | 7.1 | Day 1 | 7 | Diffuse | Compound heterozygous ABCC8 | OCT 14.5 mcg/kg/d | 0 | Gastrostomy (3.6Â years) | Normal |
#13 | 5.7 | Day 1 | 1.9 | Diffuse | Paternal KCNJ11 | OCT 3.8 mcg/kg/d | 0 | Gastrostomy (1.7Â years) | Normal |
#14 | 12.3 | Day 1 | 9 | Diffuse | Homozygous ABCC8 | OCT 19.2 mcg/kg/d | 0 | Gastrostomy (1.2Â years) | Mild gross motor, speech delay |
#15 | 7.6 | Day 70 | 5.5 | Diffuse | Presumed paternal KCNJ11 | OCT 17 mcg/kg/d | 0 | Gastrostomy (2.0Â years) | Normal |
#16 | 8.9 | Day 5 | Not resolved | Diffuse | Paternal KCNJ11 | DZX 10Â mg/kg/d | DZX 6Â mg/kg/d | Orally | Epilepsy, speech, motor, learning difficulties |
#17 | 1.1 | Day1 | Not resolved | Diffuse | Homozygous ABCC8 | DZX 10Â mg/kg/d | DZX 0.5Â mg/kg/d | Orally | Normal |
#18 | 1.3 | Day 2 | Not resolved | Diffuse | Paternal KCNJ11 | DZX 8.5Â mg/kg/d | DZX 5.8Â mg/kg/d | Orally | Normal |
#19 | 5.1 | Neonate | Not resolved | Diffuse | de novo ABCC8 | DZX 15Â mg/kg/d | DZX 10.8Â mg/kg/d | Gastrostomy (continuing at present) | Normal |
#20 | 6.8 | Day 2 | Not resolved | Diffuse | Maternal ABCC8 | DZX 9.6Â mg/kg/d | DZX 3.1Â mg/kg/d | Orally | Epilepsy, motor delay, behavioural problems |
#21 | 3.2 | Day 1 | Not resolved | Diffuse | Paternal KCNJ11 | DZX 12.5Â mg/kg/d | DZX 5Â mg/kg/d | Gastrostomy (overnight only, continuing) | Speech delay |