Article
Clinical and genetic studies in patients with Lafora disease from Pakistan.
Journal of the neurological sciences - 15 Feb 2017
Ahmad Arsalan, Dad Rubina, Ullah Muhammad Ikram, Baig Tahir Ahmed, Ahmad Imran N, Nasir Abdul, Hübner Christian A, Hassan Muhammad Jawad
Abstract excerpt
Lafora disease (LD) is progressive myoclonic epilepsy with late childhood- to teenage-onset. Mutations in two genes, EPM2A and NHLRC1, are responsible for this autosomal recessive disease in many patients Worldwide. In present study, we reported two unrelated consanguineous Pakistani families with Lafora disease (Families A and B). Affected individuals in both families presented with generalized tonic clonic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.