Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients

Alberto Verrotti, Raffaella Cusmai, Francesca Darra, Paola Martelli, Patrizia Accorsi, Silvia Bergamo, Elsa Bevivino, Giangennaro Coppola, Elena Freri, Salvatore Grosso, Sara Matricardi, Pasquale Parisi, Stefano Sartori, Alberto Spalice, Nicola Specchio, Alessia Carelli, Daniela Zini, Bernardo Dalla Bernardina, Lucio Giordano

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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.

Original languageEnglish
Pages (from-to)1597-1603
Number of pages7
JournalEpilepsy Research
Issue number9
Publication statusPublished - Nov 1 2014


  • EEG
  • Epilepsy
  • Menkes disease
  • Status epilepticus

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

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    Verrotti, A., Cusmai, R., Darra, F., Martelli, P., Accorsi, P., Bergamo, S., Bevivino, E., Coppola, G., Freri, E., Grosso, S., Matricardi, S., Parisi, P., Sartori, S., Spalice, A., Specchio, N., Carelli, A., Zini, D., Bernardina, B. D., & Giordano, L. (2014). Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients. Epilepsy Research, 108(9), 1597-1603. https://doi.org/10.1016/j.eplepsyres.2014.08.006