| Main clinical features
|
seizures developed into severe refractory epilepsy associated with EEG abnormalities, including severe background slowing, multifocal epileptic abnormalities, and hypsarrhythmia; followed by severely delayed psychomotor development with profound intellectual disability, inability to stand or walk, cerebral visual impairment, feeding difficulties necessitating tube feeding, and absent speech development;other features included acquired microcephaly, axial hypotonia, and limb ataxia, and early death
epilepsy is often intractable but responsiveness to phenytoin
progressive cerebellar atrophy, potentially as a result of excitotoxic damage (PMID: 33245860)) |