Unusual presentation of Lafora's disease

Suad F. Al Otaibi; Berge A. Minassian; Cameron A. Ackerley; William J. Logan; Shelly Weiss

doi:10.1177/08830738030180070901

Unusual presentation of Lafora's disease

Suad F. Al Otaibi, Berge A. Minassian, Cameron A. Ackerley, William J. Logan, Shelly Weiss

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7 Scopus citations

Abstract

Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy.

Original language	English (US)
Pages (from-to)	499-501
Number of pages	3
Journal	Journal of child neurology
Volume	18
Issue number	7
DOIs	https://doi.org/10.1177/08830738030180070901
State	Published - Jul 1 2003

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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abstract = "Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy.",

author = "{Al Otaibi}, {Suad F.} and Minassian, {Berge A.} and Ackerley, {Cameron A.} and Logan, {William J.} and Shelly Weiss",

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AU - Al Otaibi, Suad F.

AU - Minassian, Berge A.

AU - Ackerley, Cameron A.

AU - Logan, William J.

AU - Weiss, Shelly

PY - 2003/7/1

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N2 - Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy.

AB - Lafora's disease is a progressive myoclonus epilepsy with onset in adolescence and a gradual decline in cognitive functions and increase in seizure intractability. We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy.

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Unusual presentation of Lafora's disease

Abstract

ASJC Scopus subject areas

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