- Group 2 patients without AHC phenotype.
| Compatible Phenotype | Patient | Sex | Age of onset | Phenotype | Presenting symptoms | ||
|---|---|---|---|---|---|---|---|
| Cognition and Behavior | Seizures | Other | |||||
| EIEE | 6 | F | at birth | c.2440G>A: p.G814S de novo | Severe Global Developmental Delay. Died at 17 months | At 6 weeks Generalized Tonic + Cyanosis | Nystagmus, Axial Hypotonia and perpendicular hypertonia, decelerated head circumference |
| RECA/FIPWE | 7 | F | 2 years | c.2300G>A: p.R767H de novo Episodic encephalopathy, ataxia, movement disorder | Mild intellectual disability | At 1 year focal motor with impaired awareness | Features of cerebellar involvement |
Mean= 10.25 months, All Group 2 patients female; mean age=12 months. AHC - alternating hemiplegia of childhood, EIEE - early infantile epilepsy and encephalopathy, RECA - relapsing encephalopathy with cerebellar ataxia, FIPWE - fever-induced paroxysmal weakness and encephalopathy