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 (864) 941-8112
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
 

 


 

 

One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

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