Litcius/Paper detail

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Mark F. Bennett, Karen Oliver, Brigid M. Regan, Susannah T. Bellows, Amy Schneider, Haloom Rafehi, Neblina Sikta, Douglas E. Crompton, Matthew Coleman, Michael S. Hildebrand, Mark Corbett, Thessa Kroes, Jozef Gécz, Ingrid E. Scheffer, Samuel F. Berkovic, Melanie Bahlo

2020European Journal of Human Genetics33 citationsDOIOpen Access PDF

Topics & Concepts

HaplotypeGeneticsBiologyGenotypeGeneGlycogen Storage Diseases and MyoclonusGenetics and Neurodevelopmental DisordersEpilepsy research and treatment