Epilepsy in children with Menkes disease: a systematic review of literature

J Child Neurol. 2014 Dec;29(12):1757-64. doi: 10.1177/0883073814541469. Epub 2014 Jul 17.


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.

Keywords: EEG; Menkes disease; epilepsy.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Cation Transport Proteins / genetics
  • Child
  • Copper-Transporting ATPases
  • Disease Progression
  • Electroencephalography
  • Epilepsy / complications*
  • Epilepsy / diagnosis
  • Epilepsy / epidemiology
  • Epilepsy / genetics
  • Humans
  • Menkes Kinky Hair Syndrome / complications*
  • Menkes Kinky Hair Syndrome / diagnosis
  • Menkes Kinky Hair Syndrome / epidemiology
  • Menkes Kinky Hair Syndrome / genetics
  • Neuroimaging


  • Cation Transport Proteins
  • Adenosine Triphosphatases
  • ATP7A protein, human
  • Copper-Transporting ATPases