Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families

Salar S, Yeni N, Gunduz A, Guler A, Gokcay A, Velioglu S, Gundogdu A, Caglayan SH (2012)

Publication Type: Journal article

Publication year: 2012

Journal

Epilepsy Research Elsevier

Book Volume: 98

Pages Range: 273-276

Journal Issue: 2-3

DOI: 10.1016/j.eplepsyres.2011.09.020

Abstract

Lafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes. Mutational analysis in both genes was initiated with the aim of establishing LD DNA diagnosis in Turkey. Four novel NHLRC1 (p.G131X, p.P69S and p.D82H) and EPM2A (p.V7A) and two recurrent NHLRC1 (p.D146N) and EPM2A (p.R241X) mutations were identified in six families. The delineation of causative mutations in patients provided early disease diagnosis for other family members and contributed to the knowledge of LD pathogenesis. © 2011 Elsevier B.V.

Authors with CRIS profile

Seda Salar

Involved external institutions

Bogazici University TR Turkey (TR) Ege University / Ege Üniversitesi TR Turkey (TR) Istanbul University / İstanbul Üniversitesi TR Turkey (TR) Karadeniz Technical University / Karadeniz Teknik Üniversitesi (KTU) TR Turkey (TR)

How to cite

APA:

Salar, S., Yeni, N., Gunduz, A., Guler, A., Gokcay, A., Velioglu, S.,... Caglayan, S.H. (2012). Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. Epilepsy Research, 98(2-3), 273-276. https://dx.doi.org/10.1016/j.eplepsyres.2011.09.020

MLA:

Salar, Seda, et al. "Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families." Epilepsy Research 98.2-3 (2012): 273-276.

BibTeX: Download