2. Academic Validation
  3. Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment

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

  • Mov Disord. 2009 May 15;24(7):1016-22. doi: 10.1002/mds.22489.
Edoardo Ferlazzo 1,  Domenico Italiano,  Isabelle An,  Tiziana Calarese,  Virginie Laguitton,  Placido Bramanti,  Paolo Di Bella,  Pierre Genton
Affiliations

Affiliation

  • 1 IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy. edoferl@hotmail.it
PMID: 19243074 DOI: 10.1002/mds.22489
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.

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