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

✍ Scribed by Seda Salar; Naz Yeni; Ayşegül Gündüz; Ayşe Güler; Ahmet Gökçay; Sibel Velioğlu; Aslı Gündoğdu; S. Hande Çağlayan

Book ID: 113606315
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 177 KB
Volume: 98
Category: Article
ISSN: 0920-1211
DOI: 10.1016/j.eplepsyres.2011.09.020

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## Communicated by Claude Feréc Lafora disease (LD) is a fatal form of teenage-onset autosomal recessive progressive myoclonus epilepsy. LD is more common among geographic isolates and in populations with a higher rate of consanguinity. Mutations in two genes, EPM2A encoding laforin phosphatase, a