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 journalArticle

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).

Original languageTurkish
Pages (from-to)36-39
Number of pages4
JournalTurkiye Klinikleri Pediatri
Volume23
Issue number1
StatePublished - Apr 16 2014

    Fingerprint

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Çalişkan, D., Dündar, N. O., Karahan, N., Bozkurt, K. K., Turnbull, J., & Minassian, B. A. (2014). Lafora hastaliǧi ve oksipital lob nöbetleri. Turkiye Klinikleri Pediatri, 23(1), 36-39.