Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure - He, Jin; Lin, Han; Li, Jin-Jing; Su, Hui-Zhen; Wang, Dan-Ni; Lin, Yu; Wang, Ning; Chen, Wan-Jin (Chinese medical journal, 2018)
Keywords: Ataxia; Diagnosis; Epilepsy; Gene mutation; Genes; Genetic aspects; Genomes; Genomics; High-throughput screening (Biochemical assaying); Homozygosity; Hospitals; Humans; Kidney failure; Laboratories; Lysosomal Membrane Proteins - genetics; Male; Membranes; Mutation; Myoclonic Epilepsies, Progressive - complications; Myoclonic Epilepsies, Progressive - genetics; Myoclonic epilepsy; Neurology; Original; Parkinson's disease; Polymerase chain reaction; Progressive Myoclonus Epilepsies; Progressive Myoclonus Epilepsy with or without Renal Failure; SCARB2 Gene; Targeted Next-Generation Sequencing; Proteins; Receptors, Scavenger - genetics; Renal Insufficiency - complications; Renal Insufficiency - genetics; United States--US; China; California; SCARB2; Gene; Targeted Next-Generation Sequencing; Progressive Myoclonus Epilepsy with or without Renal Failure; Progressive Myoclonus Epilepsies; SCARB2 Gene