Butler, Kameryn

Fellow - Laboratory Genetics and Genomics

Butler, Kameryn

Dr. Butler’s work has focused on the genetic basis of neurological disease. She received her Ph.D. in genetics and molecular biology from Emory University where she evaluated and functionally tested novel variants detected from individuals with epilepsy. Dr. Butler joined GGC in the summer of 2018 as a fellow in the Laboratory Genetics and Genomics training program. She is training in implementation and interpretation of both molecular and cytogenetic diagnostic tests, as well as the development and validation of novel assays for use in clinical settings.

Contact Information

Office
Fax (864) 941-8141
kbutler@ggc.org

Education

  • B.S., Genetics, Clemson University, Clemson, SC, 2013 
  • Ph.D., Genetics and Molecular Biology, Emory University, Atlanta, GA, 2018 
  • Fellow, Laboratory Genetics and Genomics, Greenwood Genetic Center, 2018-present

Selected Publications

  • Mattison KA*, Butler KM*, Inglis GAS, Dayan O, Boussidan H, Bambhani V, Philbrook B, da Silva C, Alexander JJ, Kanner BI, Escayg A. SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport. Epilepsia, 2018 Aug 21 * equal contribution
  • Butler KM, Moody O, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A. De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy. Brain, 2018 (Accepted)
  • Butler KM, da Silva C, Alexander JJ, Hegde M, Escayg A. Diagnostic yield from 339 epilepsy patients screened on a clinical gene panel. Pediatric Neurology, 77, 2017, pp 61-66.
  • Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A. De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis. Epilepsy Research, vol. 129, 2017, pp 17-25
 

 


 

 

Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

In The News