Mustafa Sahin

Mustafa Sahin, MD, PhD

Director, Translational Neuroscience Center; Director, Translational Research Program; Associate Director, IDDRC; Rosamund Stone Zander Chair, Boston Children’s Hospital; Professor of Neurology, Harvard Medical School.

Research Focus

Axon development and neurologic disease.

Brief Research Description

Dr. Sahin's research is directed at understanding the cellular mechanisms underlying childhood neurogenetic disorders. He has predominantly focused on Tuberous Sclerosis Complex (TSC), a genetic disorder that presents often with epilepsy and autism. He is also involved in clinical and pre-clinical work through the Translational Neuroscience Center (TNC) at Boston Children’s Hospital for patients with PTEN Hamartoma Syndrome, Rett Syndrome, CDKL5 Deficiency Disorder, Tuberous Sclerosis Complex and Phelan-McDermid Syndrome.

Key Publications (PMCIDs)

Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin.
Sundberg M, Tochitsky I, Buchholz DE, Winden K, Kujala V, Kapur K, Cataltepe D, Turner D, Han MJ, Woolf CJ, Hatten ME, Sahin M
Mol Psychiatry. 2018 Nov;23(11):2167-2183. doi: 10.1038/s41380-018-0018-4. Epub 2018 Feb 15. PMID: 29449635; PMCID: PMC6093816

Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors.
Tsai PT, Rudolph S, Guo C, Ellegood J, Gibson JM, Schaeffer SM, Mogavero J, Lerch JP, Regehr W, Sahin M.
ell Rep. 2018 Oct 9;25(2):357-367.e4. doi: 10.1016/j.celrep.2018.09.039. PMID: 30304677; PMCID: PMC6226056

Tuberous Sclerosis Autism Centers of Excellence Research Network. Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex.
Davis PE, Kapur K, Filip-Dhima R, Trowbridge SK, Little E, Wilson A, Leuchter A, Bebin EM, Krueger D, Northrup H, Wu JY, Sahin M, Peters JM;
Epilepsia. 2019 Aug;60(8):1721-1732. doi: 10.1111/epi.16284. Epub 2019 Jul 12. PMID: 31297797; PMCID: PMC6687536

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