title: Epilepsy and synaptic proteins.
abstract: Throughout history, epilepsy affects about 1-2% of the population worldwide. Epilepsy can be caused by traumatic brain injury, exposure to certain toxins and drugs, and mutations of genes that often encode synaptic proteins. In addition to conventional linkage and association studies, the recent trio exome sequencing in epilepsy and proteomic analysis in autoimmune synaptopathies have accelerated identification of novel epilepsy-related proteins, most of which play critical roles in synaptic transmission. Furthermore, super-resolution microscopy analysis has revealed subsynaptic nanoscale distribution of presynaptic and postsynaptic proteins and suggests a precise trans-synaptic alignment of neurotransmitter release to receptors. Such identification and characterization of epilepsy-related synaptic proteins have been promoting the development of anti-epileptic drugs and the understanding of mechanisms of synaptic transmission.
authors.affiliation: Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki 444-8787, Japan; Department of Physiological Sciences, School of Life Science, SOKENDAI, The Graduate University for Advanced Studies, Okazaki 444-8787, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Fukata
authors.affiliation: Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki 444-8787, Japan; Department of Physiological Sciences, School of Life Science, SOKENDAI, The Graduate University for Advanced Studies, Okazaki 444-8787, Japan. Electronic address: mfukata@nips.ac.jp.
authors.forename: Masaki
authors.initials: M
authors.lastname: Fukata
mesh_terms: D004827:Epilepsy / Q000209:etiology / Q000235:genetics*; D006801:Humans; D009419:Nerve Tissue Proteins / Q000502:physiology*; D040901:Proteomics; D009435:Synaptic Transmission / Q000502:physiology
chemical_list: D009419:Nerve Tissue Proteins