Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis - 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.; et al. (American journal of human genetics, 2008)
Keywords: 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