Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

• Published in: American journal of human genetics Vol. 82; no. 3; pp. 673 - 684
• Main Authors: Berkovic, Samuel F., Dibbens, Leanne M., Oshlack, Alicia, Silver, Jeremy D., Katerelos, Marina, Vears, Danya F., Lüllmann-Rauch, Renate, Blanz, Judith, Zhang, Ke Wei, Stankovich, Jim, Kalnins, Renate M., Dowling, John P., Andermann, Eva, Andermann, Frederick, Faldini, Enrico, D'Hooge, Rudi, Vadlamudi, Lata, Macdonell, Richard A., Hodgson, Bree L., Bayly, Marta A., Savige, Judy, Mulley, John C., Smyth, Gordon K., Power, David A., Saftig, Paul, Bahlo, Melanie
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.03.2008; University of Chicago Press; Cell Press; American Society of Human Genetics
• Subjects: Animals; Biological and medical sciences; Cerebellar Cortex - pathology; Chromosome Mapping; Chromosomes, Human, Pair 4 - genetics; Epilepsy; Fundamental and applied biological sciences. Psychology; Gene Expression; General aspects. Genetic counseling; Genes; Genes, Recessive; Genetic Linkage; Genetics of eukaryotes. Biological and molecular evolution; Genotype; Glomerulonephritis - genetics; Glomerulonephritis - pathology; Humans; Kidney diseases; Lysosomal Membrane Proteins - genetics; Medical genetics; Medical sciences; Mice; Mice, Knockout; Molecular and cellular biology; Mutation; Myoclonic Epilepsies, Progressive - genetics; Myoclonic Epilepsies, Progressive - pathology; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Oligonucleotide Array Sequence Analysis; Proteins; Receptors, Scavenger - genetics; Glomerulonephritis; Kidney disease; Human; Glomerulosclerosis; Nervous system diseases; Urinary system disease; Myoclonus; Deficiency; Epilepsy; Involuntary movement; Cerebral disorder; Gene; Central nervous system disease; Genetics; Neurological disorder

Action myoclonus-renal failure syndrome (AMRF) is an autosomal-recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse, and progressive myoclonus epilepsy associated with storage material in the brain. Here, we employed a novel combination...