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01-03-2017 | Original Article

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy

Authors: Yavuz Sahin, Olcay Güngör, Zeliha Gormez, Huseyin Demirci, Bekir Ergüner, Gülay Güngör, Cengiz Dilber

Published in: Acta Neurologica Belgica | Issue 1/2017

Abstract

Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. Based on the country of origin of the patients, the clinical features/courses, and the molecular genetics background of the disorder, 14 distinct NCL subtypes have been described to date. CLN8 mutation was first identified in Finnish patients, and the condition was named Northern Epilepsy (NE); however, the severe phenotype of the CLN8 gene was subsequently found outside Finland and named ‘variant late-infantile’ NCL. In this study, five patients and their six healthy relatives from a large Turkish consanguineous family were enrolled. The study involved detailed clinical, radiological and molecular genetic evaluations. Whole-exome sequencing and homozygosity mapping revealed a novel homozygous CLN8 mutation, c.677T>C (p.Leu226Pro). We defined NE cases in Turkey, caused by a novel mutation in CLN8. WES can be an important diagnostic method in rare cases with atypical courses.

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Title: Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy
Authors: Yavuz Sahin
Olcay Güngör
Zeliha Gormez
Huseyin Demirci
Bekir Ergüner
Gülay Güngör
Cengiz Dilber
Publication date: 01-03-2017
Publisher: Springer International Publishing
Published in: Acta Neurologica Belgica / Issue 1/2017
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI: https://doi.org/10.1007/s13760-016-0721-3

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Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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