MustafaSahinMD

Professor, Neurology- Boston Children's Hospital, Harvard Medical School Director, Rosamund Stone Zander Translational Neuroscience Center

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Office
300 Longwood Ave
CLS 14073
Boston, MA 02115
Phone+1 617-919-6258

Fax+1 617-730-0284
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Summary

Dr. Mustafa Sahin is a Child Neurologist in Boston, MA and is affiliated with Boston Children's Hospital. He received his medical degree from Yale University School of Medicine and has been in practice 22 years. He is experienced in tuberous sclerosis, autism spectrum disorders, and neurogenetics.

Education & Training

Children's Hospital/Beth Israel Deaconess Medical Center/Harvard Medical SchoolFellowship, Child Neurology, 1997 - 2000
Children's Hospital of PhiladelphiaResidency, Pediatrics, 1995 - 1997
Yale School of MedicineClass of 1995

Certifications & Licensure

MA State Medical License 2000 - 2025
American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology

Awards, Honors, & Recognition

Elected Member National Academy of Medicine, 2023
The 2018 Philip R. Dodge Lecture Washington University, St Louis MO, 2018
The Jacob’s Ladder Norman Saunders International Research Prize Hospital for Sick Children, Toronto, Canada, 2017
The 32nd Annual Colleen Giblin Memorial Lecture Columbia University Medical Center, New York, NY, 2017
The 28th Annual Rita G. Rudel/Lucy M. Moses Lecture Columbia University Medical Center, New York, NY, 2015
Young Investigator Award Child Neurology Society, 2005
Super Doctor SuperDoctors.com
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Clinical Trials

Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC) Start of enrollment: 2011 Jan 01
Completed
Phase 2
A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures Start of enrollment: 2013 Apr 29
Completed
Phase 3
Treatment of Rett Syndrome With Recombinant Human IGF-1 Start of enrollment: 2013 Jan 01
Completed
Phase 2
Early Biomarkers of Autism in Infants With Tuberous Sclerosis Complex (TSC) Start of enrollment: 2013 Jan 01
Completed
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome Start of enrollment: 2015 May 01
Recruiting
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations Start of enrollment: 2015 May 01
Recruiting
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) Start of enrollment: 2015 May 01
Recruiting
A Safety Study of NNZ-2566 in Pediatric Rett Syndrome Start of enrollment: 2016 Mar 01
Completed
Phase 2
Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex Start of enrollment: 2016 Dec 01
Completed
Phase 2
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome Start of enrollment: 2017 Jun 12
Completed
Phase 1, Phase 2
Blood Flow Restriction Exercises and Conservative Exercises in Knee Osteoarthritis Start of enrollment: 2020 Sep 01
Completed
Not Applicable
Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants Start of enrollment: 2020 Sep 08
Completed
Phase 1, Phase 2
Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia Start of enrollment: 2020 Apr 27
Recruiting
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Publications & Presentations

PubMed

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).
de Vries PJ, Heunis TM, Vanclooster S, Chambers N, Bissell S, Byars AW, Flinn J, Gipson TT, van Eeghen AM, Waltereit R, Capal JK, Cukier S, Davis PE, Smith C, Kingswoo...> ;Journal of neurodevelopmental disorders. 2023-09-14
Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.
Bebin EM, Peters JM, Porter BE, McPherson TO, O'Kelley S, Sahin M, Taub KS, Rajaraman R, Randle SC, McClintock WM, Koenig MK, Frost MD, Northrup HA, Werner K, Nolan DA...> ;Annals of neurology. 2023-08-28
Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor.
Dhamne SC, Modi ME, Gray A, Bonazzi S, Craig L, Bainbridge E, Lalani L, Super CE, Schaeffer S, Capre K, Lubicka D, Liang G, Burdette D, McTighe SM, Gurnani S, Vermudez...> ;Annals of clinical and translational neurology. 2023-08-06
Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.
Frazier TW, Busch RM, Klaas P, Lachlan K, Jeste S, Kolevzon A, Loth E, Harris J, Speer L, Pepper T, Anthony K, Graglia JM, Delagrammatikas CG, Bedrosian-Sermone S, Smi...> ;American journal of medical genetics. Part C, Seminars in medical genetics. 2023-08-03
Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex.
Winden KD, Pham TT, Teaney NA, Ruiz J, Chen R, Chen C, Sahin M> ;Cell reports. 2023-07-25
Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ).
Heunis TM, Chambers N, Vanclooster S, Bissell S, Byars AW, Capal JK, Cukier S, Davis PE, de Vries MC, De Waele L, Flinn J, Gardner-Lubbe S, Gipson T, Kingswood JC, Kru...> ;Pediatric neurology. 2023-07-07
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, C...> ;American journal of medical genetics. Part A. 2023-07-01
2 citations
Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.
Thomas W Frazier, Robyn M Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Leslie Speer, Tom Pepper, Kristin A...> ;American Journal of Medical Genetics. Part A. 2023 Apr 12
Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex.
Alexis Levine, Peter Davis, Bo Zhang, Jurriaan Peters, Rajna Filip-Dhima, Simon K Warfield, Anna Prohl, Jamie Capal, Darcy Krueger, E Martina Bebin, Hope Northrup, Joy...> ;Pediatric Neurology. 2023 Mar 29
5 citations
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.
Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt, Marvin Ziegler, Terry Pirovolakis, Mustafa Sahin, Juan S Bonifacino, Darius Ebra...> ;The Journal of Clinical Investigation. 2023 May 15
Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study.
Janelle Applequist, Cristina Burroughs, Peter A Merkel, Marc Rothenberg, Bruce Trapnell, Robert Desnick, Mustafa Sahin, Jeffrey Krischer> ;Journal of Medical Internet Research. 2023 Mar 14
2 citations
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.
Robyn M Busch, Thomas W Frazier Ii, Claire Sonneborn, Olivia Hogue, Patricia Klaas, Siddharth Srivastava, Antonio Y Hardan, Julian A Martinez-Agosto, Mustafa Sahin, Ch...> ;Journal of Neurodevelopmental Disorders. 2023 Jan 14
3 citations
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
Michael S Breen, Xuanjia Fan, Tess Levy, Rebecca M Pollak, Brett Collins, Aya Osman, Anna S Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm,...> ;HGG Advances. 2023 Jan 12
A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells.
Dosh Whye, Delaney Wood, Wardiya Afshar Saber, Erika M Norabuena, Nina R Makhortova, Mustafa Sahin, Elizabeth D Buttermore> ;Current Protocols. 2023 Jan 1
2 citations
Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.
Vasiliki Karalis, Kathleen E Donovan, Mustafa Sahin> ;Journal of Developmental Biology. 2022 Dec 13
2 citations
GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.
Maya Chopra, Meera E Modi, Kira A Dies, Nancy L Chamberlin, Elizabeth D Buttermore, Stephanie Jo Brewster, Lisa Prock, Mustafa Sahin> ;Molecular Therapy. Methods & Clinical Development. 2022 Dec 8
3 citations
Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.
Alexander L Cohen, Mallory R Kroeck, Juliana Wall, Peter McManus, Arina Ovchinnikova, Mustafa Sahin, Darcy A Krueger, E Martina Bebin, Hope Northrup, Joyce Y Wu, Simon...> ;Annals of Neurology. 2023 Mar 1
4 citations
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu F...> ;Brain. 2023 May 2
14 citations
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
Siddharth Srivastava, Sara A Lewis, Julie S Cohen, Bo Zhang, Bhooma R Aravamuthan, Maya Chopra, Mustafa Sahin, Michael C Kruer, Annapurna Poduri> ;JAMA Neurology. 2022 Dec 1
5 citations
Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities.
Dosh Whye, Delaney Wood, Kristina H Kim, Cidi Chen, Nina Makhortova, Mustafa Sahin, Elizabeth D Buttermore> ;Current Protocols. 2022 Oct 1
2 citations
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome.
Stephanie A Zlatic, Duc Duong, Kamal K E Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah, James J Fink, Omar Khwaja, Lindsay C Swanson, Mustafa Sahin, Sruti Rayaprolu,...> ;Iscience. 2022 Sep 16
9 citations
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Döbler-Neumann, Catherine Jordan, Siddharth Srivastava, Bo Zhang, Mustafa Sahin, John K Fink, Linsley Smith, Jennifer...> ;Movement Disorders. 2022 Dec 1
2 citations
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
Julian Emanuel Alecu, Yuhsuke Ohmi, Robiul H Bhuiyan, Kei-Ichiro Inamori, Takahiro Nitta, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Claudio Melo de Gusmao, Nutan Sh...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
10 citations
DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting.
Christopher J Yuskaitis, Jinita B Modasia, Sandra Schrötter, Leigh-Ana Rossitto, Karenna J Groff, Christopher Morici, Divakar S Mithal, Ram P Chakrabarty, Navdeep S Ch...> ;Cell Reports. 2022 Aug 30
8 citations
Newborn screening for neurodevelopmental diseases: Are we there yet?
Wendy K Chung, Jonathan S Berg, Jeffrey R Botkin, Steven E Brenner, Jeffrey P Brosco, Kyle B Brothers, Robert J Currier, Amy Gaviglio, Walter E Kowtoniuk, Colleen Olso...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2022 Jun 1
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Press Mentions

Disrupted Cell Skeletons May Explain Brain Wiring Changes in Autism-Linked ConditionJune 28th, 2021
A Randomized Double-Blind Controlled Trial of Everolimus in Individuals with PTEN Mutations: Study Design and Statistical ConsiderationsFebruary 6th, 2021
Earlier Treatment Could Help Reverse Autistic-like Behavior in Tuberous SclerosisOctober 10th, 2018
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