ABSTRACT
In recent years, several chromosomal syndromes have been identified that seem to show a peculiar clinical and EEG picture, such as Angelman syndrome, fragile X syndrome, Miller-Dieker syndrome and Wolf-Hirschhorn syndrome. However, on very few other occasions have seizures and EEG characteristics been described in detail, which would be necessary to define an electroclinical phenotype and eventually to classify the epilepsy syndrome. Furthermore, it is conceivable that other chromosomal abnormalities would manifest a specific electroclinical picture that could help the epileptologist to choose the genetic analysis to be carried out as well as helping to identify specific genes that influence the process of epileptogenesis.
