Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

• Published in: Chinese medical journal Vol. 131; no. 13; pp. 1575 - 1583
• Main Authors: He, Jin, Lin, Han, Li, Jin-Jing, Su, Hui-Zhen, Wang, Dan-Ni, Lin, Yu, Wang, Ning, Chen, Wan-Jin
• Format: Journal Article
• Language: English
• Published: China Wolters Kluwer India Pvt. Ltd 05.07.2018; Medknow Publications and Media Pvt. Ltd; Lippincott Williams & Wilkins Ovid Technologies; Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China%Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China; Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China; Medknow Publications & Media Pvt Ltd; Wolters Kluwer
• Subjects: 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

Background: Progressive myoclonus epilepsies (PMEs) comprise a group of rare genetic disorders characterized by action myoclonus, epileptic seizures, and ataxia with progressive neurologic decline. Due to clinical and genetic heterogeneity of PMEs, it is difficult to decide which genes are affected....