Lafora hastalığı

Yusuf Ehi; Hatice Köse Özlece; İnan Gezgin; Yasemen Adalı; Ürfettin Hüseyinoğlu

doi:10.19161/etd.344296

EN TR

Lafora disease

Abstract

Lafora disease is a rare, autosomal recessive form of progressive myoclonic epilepsy, characterized by myclonic seizures, cerebellar ataxia, rapidly progressive dementia and poor prognosis. The symptoms typically start between the ages of 12 and 17 years in a previously normal mental and motor developing child. The diagnosis is made by clinical signs, electroencephalographic findings and muscle and skin biopsies. In our case a 17-year- old woman who was diagnosed as Lafora disease presented in light of the literatüre.

Keywords

Lafora disease, progressive myoclonic epilepsy

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Yusuf Ehi

Hatice Köse Özlece

İnan Gezgin

Yasemen Adalı

Ürfettin Hüseyinoğlu

Publication Date

March 1, 2017

Submission Date

March 1, 2017

Acceptance Date

-

Published in Issue

Year 2017 Volume: 56 Number: 1

DOI

https://doi.org/10.19161/etd.344296

IZ

https://izlik.org/JA35BD64PY

Cite

RIS / Bibtex

Vancouver

1.Yusuf Ehi, Hatice Köse Özlece, İnan Gezgin, Yasemen Adalı, Ürfettin Hüseyinoğlu. Lafora hastalığı. EJM. 2017 Mar. 1;56(1):34-6. doi:10.19161/etd.344296

Lafora disease

Abstract

Keywords