Abstract
Patients present with an early-onset epilepsy generally unresponsive to anticonvulsants. Infants may show peculiar eye movements and apnoic spells. General clinical features are developmental delay, microcephaly, spasticity, hypotonia, and a complex motor disorder. Symptoms may be variable and may aggravate on fasting. Ataxia, dystonia, and choreaoathetosis may be continuous or paroxysmal, and atypical variants without epilepsy have been described [1–8].
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