Epileptic encephalopathies are conditions in which epileptic activity itself is postulated to contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. The term has been used in two ways: (1) as a generic classification term for epilepsies with severe cognitive and be-havioural outcomes and (2) as a pathophysiological...

clinical overview The early epileptic encephalopathies are a group of conditions that all manifest with three major diagnostic criteria: medically refractory seizures, diffuse encephalopathy and a poor developmental outcome. These syndromes include early infantile epileptic encephalopathy (EEIE, also known as Otahara’s syndrome), severe myoclonic epilepsy of infancy (Dravet’s syndrome), infanti...

Beckwith-Wiedemann syndrome (BWS) is etiologically connected with genetic/epigenetic growth dysregulation. The supposed localization of this disorder is a short arm of chromosome 11 (11p 15.5). Its prevalence is 1:13 per 700 newborns. West syndrome is an age-dependent epileptic syndrome related to a group of infantile epileptic encephalopathies and characterized by a triad of basic symptoms: se...

Early infantile epileptic encephalopathy or EIEE (Ohtahara syndrome OS) is a kind of intractable seizure that begins in neonatal age with sudden onset of tonic spasms in series or single suppression-burst S-B in EEG.I Imaging shows anatomic defects such as migration disorders and generalized atrophy" with essentially normal metabolic tests. The seizures often change to West's syndrome (WS) ...

We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromosome 18 with a significant LOD score of 4.3. In this area, two homozygous nonconserved missense mut...

Objective To study the epilepsy syndromes among severe epilepsies of infancy and assess their incidence, etiologies, outcomes. Methods A population-based cohort was undertaken with onset before age 18 months in Victoria, Australia. Two epileptologists reviewed clinical features, seizure videos, electroencephalograms to diagnose International League Against Epilepsy syndromes. Incidence, outcome...