Research
KBG Research Studies
Assessment of Adaptive Functioning and the Impact of Seizures in KBG Syndrome
Kathleen P. Sarino1 | Lily Guo1 | Edward Yi1 | Jiyeon Park1 | Ola Kierzkowska1 | Drake Carter1 | Elaine Marchi1 | Gholson J. Lyon1,2,3
Choi Y, Choi J, Do H, Hwang S, Seo GH, Choi IH, Keum C, Choi JH, Kang M, Kim GH, Yoo HW, Lee BH. Mol Genet Genomic Med. 2023 Apr;11(4):e2127. doi: 10.1002/mgg3.2127. Epub 2022 Dec 23. PMID: 36564961; PMCID: PMC10094073
Growth hormone therapy for children with KBG syndrome: A case report and review of literature
Ge XY, Ge L, Hu WW, Li XL, Hu YY. World J Clin Cases. 2020 Mar 26;8(6):1172-1179. doi: 10.12998/wjcc.v8.i6.1172. PMID: 32258089; PMCID: PMC7103963.
Kibalnyk, Y., Afanasiev, E., Noble, R.M.N. et al. The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function. Nat Commun 15, 4632 (2024). https://doi.org/10.1038/s41467-024-48955-1
Epilepsy in KBG Syndrome: Report of Additional Cases
Whitney, Robyn et al. Pediatric Neurology, Volume 151, 138 - 142