A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.
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intellectual disability, autosomal dominant 5
MONDO:0012960
benign partial infantile seizures
MONDO:0015642
infant epilepsy with migrant focal crisis
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infantile spasms-broad thumbs syndrome
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infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
MONDO:0018314
undetermined early-onset epileptic encephalopathy
MONDO:0018614