| Phenotype details |
see paper; ..., no abnormalities during pregnancy; elective caesarian section due to fetal distress and subsequent neurological impairment in older brother; birth 38w; developmental delay; motor delay; speech delay, non-verbal; epilepsy, severe treatment refractory epilepsy, seizure frequency of 2-3/day p artial seizures with myoclonic jerk, set-ith sha of one hand moving to convulsions; EEG abnormal pattern with loss of normal rhythmic activities and frequent multi-focal discharges; truncal hypotonia; spasticity affecting all four limbs; no ataxia; no behavioral disturbances; no sleep disturbances; MRI brain incomplete myelination and enlargement of lateral ventricles, 4m-MRI brain normal; regression, less frequent vocalization, always been non-verbal; continuous tremor, myoclonus of limbs and head rolling. no other neurological abnormalities locomotor function. Tracheostomy 2005 due to "floppy palate"; no facial dysmorphisms; yellow, carious teeth; drooling, dysphagia; no hearing abnormalities; normal ERG; no cardiac abnormalities; scoliosis, conservatively managed, small hands and feet; no hypermobility joints; lactose intolerance and severe reflux which required fundoplication; gastrostomy-fed; urinary sediment (75% Calcium phosphate and 25% magnesium ammonium phosphate); 6m-elevated proline and reduced glutamine and glutamate on CSF; atypical dermatitis herpetiformis, improved with gluten-free diet, recurrent chest infections and has had 5x herpes zoster, each time resulting in increased seizure frequency, multiple allergies; vtiligo; no neoplasms; normal serum alkaline phosphatase levels |
