- Patients with AHC phenotype
| Patient | Sex | Age of onset | Phenotype | Presenting symptoms | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| AHC | Dystonia | Cognition and Behavior | Seizures | Other | ||||||
| Onset | Offset | Duration | ||||||||
| 1 | F | 3 years | c.998T>A: p.Val333Asp de novo Pathogenic (PS2;PP3;PM1;PM2;PP5) | 3 years | 7 years controlled by carbamazepine | last for hours | Impaired speech mild intellectual disability | none | ||
| 2 | F | 2 years | c.2435A>T: p.D812Val de novo Pathogenic (PM1;PS2;PM5;PP3;PM2) | 2 years | 11 years | hours to days | Global developmental delay + Autistic features | At 2 years, intractable, Atonic and Generalized Tonic/Clonic | ||
| 3 | M | 15 months | c.1198G>A: p.Glu400Lys de novo Likely Pathogenic (PS2;PM2;PP5) | 15 months | 3 years | hours to days | Global Developmental Delay | At 34 months Focal seizure | Nystagmus | |
| 4 | M | 3 years | c.2284G>T: p.Gly762Cys de novo Pathogenic (PM2;PS2;PM5;PP3;PM5) | 3 years | 6 years | 15-30 mins | Aggressive and hyperactive | At 8 years Focal secondarily generalized. Controlled on Topamax. | ||
| 5 | F | 2 months | c.2434G>A: p.D812N de novo Pathogenic (PM1;PS2;PS3;;PM5; PP3;PM5;PM2) | 2 months | 1-2 months triggered by emotional stress treated by flunarizine and currently by carbamazepine | hours to days | Mild dystonia | Global Developmental Delay, aggressive and hyperactive | At 2 months Focal with secondarily generalized | Spasticity L>R |
Mean=24 months age of onset, Group 1 participants 60% female and 40% male; mean age=24 months. AHC-alternating hemiplegia of childhood, L-left, R-right