Description of a family with a novel Progressive myoclonus epilepsy and cognitive impairment

Edoardo Ferlazzo, Domenico Italiano, Isabelle An, Tiziana Calarese, Virginie Laguitton, Placido Bramanti, Paolo Di Bella, Pierre Genton

Research output: Contribution to journalArticlepeer-review

Abstract

We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.

Original languageEnglish
Pages (from-to)1016-1022
Number of pages7
JournalMovement Disorders
Volume24
Issue number7
DOIs
Publication statusPublished - May 15 2009

Keywords

  • Cognitive impairment
  • Progressive myoclonus epilepsy
  • Seizures

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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