Abstract
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with signs and symptoms that together define a distinctive, recognizable, clinical disorder. These often become the focus of treatment trials as well as of genetic, neuropsychological, and neuroimaging investigations. They are distinctive disorders identifiable on the basis of a typical age onset, specific EEG characteristics, seizure types, and often other features which, when taken together, permit a specific diagnosis which, in turn, often has implications for treatment, management, and prognosis. Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. Therefore, according to the age at onset, here we review the more frequently observed paediatric electro-clinical syndrome from their clinical-EEG, genetic and therapeutic point of views.
Highlights
Syndrome classification is not applicable to all patients with epilepsy, but only a limited number of patients [1]
To provide epileptologists a comprehensive highlights of electroclinical syndromes (ECS) aspects, among the currently ILAE recognized ECS, here we review, from an “electro-clinical”, therapeutics and genetic points of view, the most frequently observed forms with onset in paediatric age
There are some ECS with onset in paediatric age which can be associated with psychomotor development and cognitive skills deterioration; to prevent neuropsychiatric impairment, an early recognition can allow us to properly manage diagnostic flow-charts and appropriate therapeutic options
Summary
Syndrome classification is not applicable to all patients with epilepsy, but only a limited number of patients [1]. SCL2A1 gene encodes glucose transporter type 1 (GLUT1), a glucose transporter across the blood-brain barrier; SCL2A1 is responsible for the GLUT1 deficiency syndrome (infantile-onset epilepsy with heterogeneous type of seizures, complex movement disorders, ataxia, intellectual disability, macrocephaly, and hypoglycorrhachia) [66], and a large phenotypic spectrum characterized by normal glycorrhachia, movement disorders, often normal mental capacities, and seizures, in particular absence seizures [67] Starting from these observation Suls et al have found mutations in SCL2A1 gene in 12% of a cohort of 34 children with EOAE; the only clinical feature that can allow to differ children with EOAE from chidlren with CAE is the earlier age of onset. Lennox-Gastaut Syndrome As regards the etiology, LGS (a rare epileptic encephalopathy comprising generalized slow spikes-waves, mental deficiency and early onset of multiple and different seizures types) is usually divided into symptomatic or criptogenetic group, based on the presence or absence of neurological abnormalities or specific causes [83,84]. VPA, CNZ, ESM, and LEV are treatment options [135,136]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
