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

doi:10.1002/mds.22489

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

IRCCS Centro Neurolesi "Bonino Pulejo"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	1016-1022
Number of pages	7
Journal	Movement Disorders
Volume	24
Issue number	7
DOIs	https://doi.org/10.1002/mds.22489
Publication status	Published - May 15 2009

Keywords

Cognitive impairment
Progressive myoclonus epilepsy
Seizures

ASJC Scopus subject areas

Clinical Neurology
Neurology

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10.1002/mds.22489

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Description of a family with a novel Progressive myoclonus epilepsy and cognitive impairment. / Ferlazzo, Edoardo; Italiano, Domenico; An, Isabelle; Calarese, Tiziana; Laguitton, Virginie; Bramanti, Placido; Di Bella, Paolo; Genton, Pierre.

In: Movement Disorders, Vol. 24, No. 7, 15.05.2009, p. 1016-1022.

Research output: Contribution to journal › Article › peer-review

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AU - Bramanti, Placido

AU - Di Bella, Paolo

AU - Genton, Pierre

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

Abstract

Keywords

ASJC Scopus subject areas

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