A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.

Early infantile epileptic encephalopathies (EIEEs) are a group of neurological disorders characterized by early-onset refractory seizures, severe electroencephalographic abnormalities, and developmental delay or intellectual disability. Recently, genetic studies have indicated that a significant portion of previously cryptogenic EIEEs are single-gene disorders. is among the genes whose mutations are associated with EIEE development (OMIM# 613477).

Cost assessment of headache in childhood and adolescence: preliminary data.

Headache, and in particular migraine, is a common disturbance in childhood and adolescence. The disabling nature of headache, evident in the adult, together with its effects on family life and reduction in performance of scholastic activity, make it a disease with an elevated social economic impact. We present preliminary results of a prospective study conducted over 6 months on a population of headache sufferers in childhood and adolescence who referred to our Juvenile Neuropsychiatry Centre of the Hospital of Perugia.