Butler, Kameryn

Dr. Butler joined GGC in 2018 as a clinical laboratory fellow in the Laboratory Genetics and Genomics training program. She was named assistant director of the Cytogenetics Laboratory at GGC in July 2021. She is a member of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Contact Information

Office (864) 941-8112
Fax (864) 941-8141
[email protected]

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, 2018-2021
• Assistant Director, Cytogenetics Laboratory, Greenwood Genetic Center, 2021-present

Selected Publications

• Butler KM, Fee T, DuPont BR, Dean JH, Stevenson RE, Lyons MJ. A SOX3 duplication and lumbosacral spina bifida in three generations. Am J Med Genet A. 2022 Jan 31.
• Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D. DNA methylation episignature in Gabriele-de Vries syndrome. Genet Med. 2022 Jan 10:S1098-3600(21)05422-8.
• Wong JC, Butler KM, Shapiro L, Thelin JT, Mattison KA, Garber KB, Goldenberg PC, Kubendran S, Schaefer GB, Escayg A. Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease. Front Pharmacol. 2021 Nov 17;12:748415.
• Bell S, Butler KM, Drazba KT, Lynch J, Abidi FE, DuPont B, Stevenson RE. Angelman syndrome with a 15q11q13 deletion in a mother and daughter. Clin Dysmorphol. 2021 Nov 12.
• Butler KM, Bahrambeigi V, Merrihew A, Friez MJ, Cathey SS. Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature. Clin Dysmorphol. 2021 Oct 1;30(4):167-172.
• Butler KM, Holt P, Milla S, da Silva C, Alexander JJ, Escayg A. Epileptic encephalopathy and cerebellar atrophy resulting from compound heterozygous CACNA2D2 variants. Case Reports in Genetics, 2018 Oct 15.
• 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 Aug 1;141(8):2392-2405.
• 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