title: Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.
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.
authors: Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey.
authors: Seda
authors: S
authors: Salar
authors: Naz
authors: N
authors: Yeni
authors: Ayşegül
authors: A
authors: Gündüz
authors: Ayşe
authors: A
authors: Güler
authors: Ahmet
authors: A
authors: Gökçay
authors: Sibel
authors: S
authors: Velioğlu
authors: Aslı
authors: A
authors: Gündoğdu
authors: S
authors: S
authors: Hande Çağlayan
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D020192:Lafora Disease / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*; D014421:Turkey; D044767:Ubiquitin-Protein Ligases; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human