Juvenil myoklonik epilepsi kliniği ile prezente olan lafora hastalığı

Güler A; Gökçay A; Kandiloğlu G; Özbay Ö E; Karasoy H

EN TR

Lafora disease presented with juvenile myoclonic epilepsy clinical features

Abstract

Lafora disease accounts for %10 of patients with Progressive Myoclonic Epilepsy. Lafora disease frequently develops 10-18 years of age and tranmission is autosomal recessive. Males and females are equally affected. The first symptoms are usually myoclonic, tonic-clonic, atonic or absence seizures. Case: The patient who had no complaints until 17 years old was admitted to the clinic with incipient myoclonic seizures. While the patient followed up with Juvenile Myoclonic Epilepsy diagnosis in the course of time different seizute types and cognitive impairment developed. With pathological and genetic analysis Lafora disease confirmed. Conclusion: This paper, accompanied by cases in literature, is about a patient presented as juvenile myoclonic epilepsy, who had Lafora disease and the diagnosis confirmed with pathological and genetic analysis.

Keywords

Lafora disease, myoclonic epilepsy, cognitive impairment

Ayrıntılar

Birincil Dil

Türkçe

Konular

-

Bölüm

-

Yazarlar

Güler A

Gökçay A

Kandiloğlu G

Özbay Ö E

Karasoy H

Yayımlanma Tarihi

1 Haziran 2009

Gönderilme Tarihi

1 Haziran 2009

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 1970 Cilt: 48 Sayı: 2

IZ

https://izlik.org/JA22DL84RB

Kaynak Göster

RIS / Bibtex

Vancouver

1.Güler A, Gökçay A, Kandiloğlu G, Özbay Ö E, Karasoy H. Juvenil myoklonik epilepsi kliniği ile prezente olan lafora hastalığı. ETD [Internet]. 01 Haziran 2009;48(2):131-4. Erişim adresi: https://izlik.org/JA22DL84RB

Lafora disease presented with juvenile myoclonic epilepsy clinical features

Abstract

Keywords