Article
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Journal of human genetics - 1 Dec 2021
Haryanyan Garen, Ozdemir Ozkan, Tutkavul Kemal, Dervent Aysin, Ayta Semih, Ozkara Cigdem, Salman Baris, Yucesan Emrah, Kesim Yesim, Susgun Seda, Ozbek Ugur, Baykan Betul, Ugur Iseri Sibel A, Bebek Nerses
Abstract excerpt
Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2A or NHLRC1, which encode laforin and malin, respectively. The disease usually starts with adolescent onset seizures followed by progressive dementia, refractory status epilepticus and eventually death within 10 years of onset. LD is...
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