title: Mutational consequences of aberrant ion channels in neurological disorders.
abstract: Neurological channelopathies are attributed to aberrant ion channels affecting CNS, PNS, cardiac, and skeletal muscles. To maintain the homeostasis of excitable tissues, functional ion channels are necessary to rely electrical signals, whereas any malfunctioning serves as an intrinsic factor to develop neurological channelopathies. Molecular basis of these disease is studied based on genetic and biophysical approaches, e.g., loci positional cloning, whereas pathogenesis and bio-behavioral analysis revealed the dependency on genetic mutations and inter-current triggering factors. Although electrophysiological studies revealed the possible mechanisms of diseases, analytical study of ion channels remained unsettled and therefore underlying mechanism in channelopathies is necessary for better clinical application. Herein, we demonstrated (i) structural and functional role of various ion channels (Na(+), K(+), Ca(2+),Cl(-)), (ii) pathophysiology involved in the onset of their associated channelopathies, and (iii) comparative sequence and phylogenetic analysis of diversified sodium, potassium, calcium, and chloride ion channel subtypes.
authors.affiliation: Molecular Neuroscience and Functional Genomics Laboratory, Department of Biotechnology, Delhi Technological University (Formerly Delhi College of Engineering), FW4TF3, Shahbad Daulatpur, Bawana Road, Delhi, 110042, India.
authors.forename: Dhiraj
authors.initials: D
authors.lastname: Kumar
authors.forename: Rashmi K
authors.initials: RK
authors.lastname: Ambasta
authors.forename: Pravir
authors.initials: P
authors.lastname: Kumar
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D053447:Channelopathies / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics*; D007473:Ion Channels / Q000737:chemistry* / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics*
chemical_list: D007473:Ion Channels