Article
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
American journal of human genetics - 1 Sept 2022
Marafi Dana, Kozar Nina, Duan Ruizhi, Bradley Stephen, Yokochi Kenji, Al Mutairi Fuad, Saadi Nebal Waill, Whalen Sandra, Brunet Theresa, Kotzaeridou Urania, Choukair Daniela, Keren Boris, Nava Caroline, Kato Mitsuhiro, Arai Hiroshi, Froukh Tawfiq, Faqeih Eissa Ali, AlAsmari Ali M, Saleh Mohammed M, Pinto E Vairo Filippo, Pichurin Pavel N, Klee Eric W, Schmitz Christopher T, Grochowski Christopher M, Mitani Tadahiro, Herman Isabella, Calame Daniel G, Fatih Jawid M, Du Haowei, Coban-Akdemir Zeynep, Pehlivan Davut, Jhangiani Shalini N, Gibbs Richard A, Miyatake Satoko, Matsumoto Naomichi, Wagstaff Laura J, Posey Jennifer E, Lupski James R, Meijer Dies, Wagner Matias
Abstract excerpt
The leucine-rich glioma-inactivated (LGI) family consists of four highly conserved paralogous genes, LGI1-4, that are highly expressed in mammalian central and/or peripheral nervous systems. LGI1 antibodies are detected in subjects with autoimmune limbic encephalitis and peripheral nerve hyperexcitability syndromes (PNHSs) such as Isaacs and Morvan syndromes. Pathogenic variations of LGI1 and LGI4 are associated...
Topics
Join the communities discussing this publication.