| Phenotype details |
development delayed priot to seizure onset, speech acquisition; seizure onset 12m myoclonic; development after onset seizures severe intellectual disability, 18m-single words, 9y-rare word combinations, currently 20 single words, follows simple commands, regression with frequent seizures, loss of speech, less response to painful stimuli; febrile non-convulsive status epilepticus (14m), focal impaired awareness seizures with clonic component, seizure offset 10.5y; EEG-frequent irregular generalized spike-wave, background slowing with occipital predominance, myoclonic jerks associated with irregular generalized spike-wave, staring episodes with irregular generalized spike-wave with variable lead from central and posterior regions, focal clonic seizures emanating from L or R central region; MRI brain 9y4m-mild ventriculomegaly, thin corpus callosum in posterior body and splenium, subtle white matter volume reduction, normal myelination, SWI blooming in cerebral peduncles and globus pallidi, 10y5m:-mild subtle white matter volume reduction, normal myelination; sleep disturbance, dental issues, oro-motor apraxia, moderate pes planus, peripheral hypotonia, intoeing with wide-based gait, poor coordination, high pain threshold, seizure trigger: fever, head flexion, aggression, broad nasal bridge, hypertelorism, mild facial asymmetry |
