title: Epilepsy in children with Menkes disease: a systematic review of literature.
abstract: Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar "kinky hair." Epilepsy is one of the main clinical features of this disease but it has been described in detail by only a few authors. Most patients develop seizures from 2 to 3 months of age, accompanied by a neurodevelopmental regression. The history of epilepsy is usually characterized by 3 stages: an early stage with focal clonic seizures and status epilepticus, an intermediate stage with infantile spasms, and a late stage with multifocal, myoclonic, and tonic seizures. At the onset, epilepsy can be controlled with anticonvulsant therapy, whereas with the progression of disease, it becomes extremely resistant to all antiepileptic drugs. In this article, we analyze clinical and electroencephalographic (EEG) characteristics of epilepsy in patients with this syndrome.
authors.affiliation: Department of Pediatrics, Perugia University, Perugia, Italy averrott@unich.it.
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.affiliation: Department of Pediatrics, Perugia University, Perugia, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Carelli
authors.affiliation: Department of Child Neuropsychiatry, Salerno University, Salerno, Italy.
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D002648:Child; D000073840:Copper-Transporting ATPases; D018450:Disease Progression; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D059906:Neuroimaging
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases
keywords: EEG; Menkes disease; epilepsy