A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

Epileptic Disord. 2011 Sep;13(3):259-62. doi: 10.1684/epd.2011.0461.

Abstract

We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases. [Published with video sequences].

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anticonvulsants / therapeutic use
  • Child
  • Drug Resistance
  • Dystroglycans / blood*
  • Electroencephalography*
  • Epilepsies, Myoclonic / etiology
  • Epilepsy / complications*
  • Epilepsy / drug therapy
  • Epilepsy / physiopathology
  • Fatal Outcome
  • Female
  • Glycosylation
  • Humans
  • Microcephaly / complications
  • Muscular Dystrophies / complications*
  • Muscular Dystrophies / physiopathology
  • Seizures / etiology
  • Seizures / physiopathology
  • Video Recording

Substances

  • Anticonvulsants
  • Dystroglycans