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

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Güler A

Gökçay A

Kandiloğlu G

Özbay Ö E

Karasoy H

Publication Date

June 1, 2009

Submission Date

June 1, 2009

Acceptance Date

-

Published in Issue

Year 1970 Volume: 48 Number: 2

IZ

https://izlik.org/JA22DL84RB

Cite

RIS / Bibtex

Vancouver

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

Lafora disease presented with juvenile myoclonic epilepsy clinical features

Abstract

Keywords