Lafora hastaliǧi ve oksipital lob nöbetleri

Duygu Çalişkan; Nihal Olgaç Dündar; Nermin Karahan; Kemal Kur̈şat Bozkurt; Julie Turnbull; Berge A. Minassian

Lafora hastaliǧi ve oksipital lob nöbetleri

Translated title of the contribution: Lafora disease and occipital lobe seizures: Case report

Duygu Çalişkan, Nihal Olgaç Dündar, Nermin Karahan, Kemal Kur̈şat Bozkurt, Julie Turnbull, Berge A. Minassian

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

1 Scopus citations

Abstract

Lafora disease is an autosomal recessive type of progressive myoclonus epilepsy with onset in late childhood or adolescence. The first symptoms are usually myoclonic, tonic-clonic, occipital seizures, visual symptoms and decline in cognitive functions. Lafora disease accounts for 10% of patients with progressive myoclonic epilepsy. Here in we present a 14 year-old boy with tonic-clonic seizures followed at different hospital who was later admitted to our clinic with visual symptoms in the form of black spots, decline in school performance and decelaration of speech. The diagnosis was made with skin biopsy (showed the Lafora bodies) and genetic analysis (deletion of exon 1 in EPM2A gene).

Translated title of the contribution	Lafora disease and occipital lobe seizures: Case report
Original language	Turkish
Pages (from-to)	36-39
Number of pages	4
Journal	Turkiye Klinikleri Pediatri
Volume	23
Issue number	1
State	Published - Apr 16 2014

Keywords

Delirium, dementia, amnestic, cognitive disorders
Epilepsies, partial
Lafora disease
Myoclonic epilepsies

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

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abstract = "Lafora disease is an autosomal recessive type of progressive myoclonus epilepsy with onset in late childhood or adolescence. The first symptoms are usually myoclonic, tonic-clonic, occipital seizures, visual symptoms and decline in cognitive functions. Lafora disease accounts for 10% of patients with progressive myoclonic epilepsy. Here in we present a 14 year-old boy with tonic-clonic seizures followed at different hospital who was later admitted to our clinic with visual symptoms in the form of black spots, decline in school performance and decelaration of speech. The diagnosis was made with skin biopsy (showed the Lafora bodies) and genetic analysis (deletion of exon 1 in EPM2A gene).",

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T1 - Lafora hastaliǧi ve oksipital lob nöbetleri

AU - Çalişkan, Duygu

AU - Dündar, Nihal Olgaç

AU - Karahan, Nermin

AU - Bozkurt, Kemal Kur̈şat

AU - Turnbull, Julie

AU - Minassian, Berge A.

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AB - Lafora disease is an autosomal recessive type of progressive myoclonus epilepsy with onset in late childhood or adolescence. The first symptoms are usually myoclonic, tonic-clonic, occipital seizures, visual symptoms and decline in cognitive functions. Lafora disease accounts for 10% of patients with progressive myoclonic epilepsy. Here in we present a 14 year-old boy with tonic-clonic seizures followed at different hospital who was later admitted to our clinic with visual symptoms in the form of black spots, decline in school performance and decelaration of speech. The diagnosis was made with skin biopsy (showed the Lafora bodies) and genetic analysis (deletion of exon 1 in EPM2A gene).

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Lafora hastaliǧi ve oksipital lob nöbetleri

Abstract

Keywords

ASJC Scopus subject areas

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