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Paper Details

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Am J Hum Genet
4
2022
Isaacs and Morvan syndromes, Kv1 channel, Kv1 channel complexes, LGI, LGI1, LGI1 antibodies, LGI1-4, LGI2, LGI3, LGI4, Lgi3, Myokymia, PNHS, PNHSs, autoimmune limbic encephalitis, bi-allelic variants, developmental delay, diminished reflexes, distal deformities, familial temporal lobe epilepsy, gene paralog, human, intellectual disability, juxtaparanode, leucine, leucine-rich glioma-inactivated, mice, motor nerve instability, myelin defects, myelinated peripheral axons, myokymia, neurogenic arthrogryposis multiplex congenita 1, neurological disorders, paralogous genes, peripheral nerve hyperexcitability syndromes
Author NameAffiliation
Pavel N PichurinMayo Clinic
Pavel N PichurinMayo Clinic
Eric W KleeCenter for Individualized Medicine, Mayo Clinic
Zeynep Coban AkdemirBaylor College of Medicine, School of Public Health, The University of Texas Health Science Center at Houston
Shalini N JhangianiBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
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