title: Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
abstract: OBJECTIVE
  To report the detection of mutations in the SCARB2 gene in a previously described patient with progressive myoclonus epilepsy (PME) and demyelinating peripheral neuropathy.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Epilepsy Genetics Research Laboratory and Epilepsy Service in a tertiary care center.
  
  
  METHODS
  A 27-year old male patient with PME with preserved intellect and peripheral neuropathy.
  
  
  RESULTS
  We have solved a previously reported case of PME, preserved intellect, and demyelinating peripheral neuropathy. The patient is a compound heterozygote for 2 mutations in the SCARB2 gene, which has recently been found to be a cause of PME.
  
  
  CONCLUSIONS
  Demyelinating neuropathy is a clinical clue to the presence of SCARB2 mutations in PME.
authors.affiliation: Epilepsy Research Program, South Australia Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
authors.forename: Leanne M
authors.initials: LM
authors.lastname: Dibbens
authors.forename: Ioannis
authors.initials: I
authors.lastname: Karakis
authors.forename: Marta A
authors.initials: MA
authors.lastname: Bayly
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Costello
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Cole
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
mesh_terms: D000328:Adult; D003711:Demyelinating Diseases / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics*; D011379:Prognosis; D051116:Receptors, Scavenger / Q000235:genetics*
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human