Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

ABSTRACT: The advent of whole exome/genome sequencing and the technology-driven reduction in the cost of next-generation sequencing as well as the introduction of diagnostic-targeted sequencing chips have resulted in an unprecedented volume of data directly linking patient genomic variability to disorders of the brain. This information has the potential to transform our understanding of neurologic disorders by improving diagnoses, illuminating the molecular heterogeneity underlying diseases, and identifying new targets for therapeutic treatment. There is a strong history of mutations in GABA receptor genes being involved in neurologic diseases, particularly the epilepsies. In addition, a substantial number of variants and mutations have been found in GABA receptor genes in patients with autism, schi

SUBMITTER: Yuan H 

PROVIDER: S-EPMC4468639 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature