title: Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients.
abstract: BACKGROUND
  Epilepsy is a frequent and severe feature of Menkes disease (MD) but only few studies described the long-term evolution of these children. We report a series of 28 epileptic MD patients, with clinical characteristics, EEG abnormalities, brain malformations and long-term outcome.
  
  
  METHODS
  EEG, clinical characteristics and neuroimaging features in 28 MD patients were analyzed at the onset of epilepsy and after long-term follow-up (at least 4 years). We subdivided the patients into two groups: Group 1, 16 patients who received a subcutaneous copper-histidine treatment, and Group 2 including 12 patients who did not get any therapies.
  
  
  RESULTS
  The large majority of our patients presented at the onset of epilepsy focal seizures (FS) and infantile spasms (IS). Five patients had recurrent status epilepticus (SE). During the follow-up, patients showed multiple seizure types: 6 patients had generalized tonic clonic seizures (GCT), 6 patients presented IS, 10 children had FS, 11 had myoclonic jerks and 3 had SE. Therapy with various antiepileptic drugs had poor efficacy, except in three patients who showed seizure disappearance with consequent discontinuation of antiepileptic therapy. There was no difference of neurological outcome among the two groups analyzed.
  
  
  CONCLUSIONS
  Epilepsy in MD is a difficult to treat problem. At the onset, the most frequent type of seizures are FC and IS; in the next months, other kinds of seizures can appear. Many children are drug resistant. Institution of replacement therapy with copper-histidine seems to be not beneficial for epilepsy.
authors.affiliation: Department of Pediatrics, University of Perugia, Italy. Electronic address: averrott@unich.it.
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.affiliation: Division of Neurology, Metabolic Unit "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Cusmai
authors.affiliation: Child Neuropsychiatry, University of Verona, Verona, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Darra
authors.affiliation: Child Neuropsychiatry, Regional Epilepsy Center, Brescia, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Martelli
authors.affiliation: Child Neuropsychiatry, Regional Epilepsy Center, Brescia, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Accorsi
authors.affiliation: Pediatric Neurology Unit, Department of Women's and Children's Health, University and City Hospital of Padua, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Bergamo
authors.affiliation: Division of Neurology, Metabolic Unit "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Elsa
authors.initials: E
authors.lastname: Bevivino
authors.affiliation: Child and Adolescent Neuropsychiatry, Faculty of Medicine and Surgery, University of Salerno, Italy.
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
authors.affiliation: Department of Pediatric Neuroscience, Carlo Besta Neurological Institute, Milan, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Freri
authors.affiliation: Pediatric Neurology-Immunology and Endocrinology Unit, Department of Pediatrics, University of Siena, Siena, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.affiliation: Department of Pediatric Neuroscience, Carlo Besta Neurological Institute, Milan, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Matricardi
authors.affiliation: Child Neurology, Chair of Pediatrics, II Faculty of Medicine, "La Sapienza" University, Rome, Italy.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Parisi
authors.affiliation: Pediatric Neurology Unit, Department of Women's and Children's Health, University and City Hospital of Padua, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
authors.affiliation: Department of Pediatrics, University of Rome "La Sapienza", Rome, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
authors.affiliation: Division of Neurology, Metabolic Unit "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
authors.affiliation: Department of Pediatrics, University of Perugia, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Carelli
authors.affiliation: Child Neuropsychiatry, University of Verona, Verona, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Zini
authors.affiliation: Child Neuropsychiatry, University of Verona, Verona, Italy.
authors.forename: Bernardo
authors.initials: B
authors.lastname: Dalla Bernardina
authors.affiliation: Child Neuropsychiatry, Regional Epilepsy Center, Brescia, Italy.
authors.forename: Lucio
authors.initials: L
authors.lastname: Giordano
mesh_terms: D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications* / Q000188:drug therapy / Q000401:mortality; D009483:Neuropsychological Tests; D012189:Retrospective Studies; D015898:Tomography Scanners, X-Ray Computed
chemical_list: D000927:Anticonvulsants
keywords: EEG; Epilepsy; Menkes disease; Status epilepticus