MustafaSahinMD

Child Neurology • Boston, MA

Neurologist-in-Chief and Chair of Neurology, Boston Children's Hospital; Professor of Neurology, Harvard Medical School

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Office
300 Longwood Av
CLSB 14073
Boston, MA 02115
Phone+1 617-919-6258

Fax+1 617-730-0284

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

Boston 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
ACTIVE_NOT_RECRUITING
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
RECRUITING
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
ACTIVE_NOT_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
COMPLETED
PHASE2
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome Start of enrollment: 2017 Jun 12
COMPLETED
PHASE1, PHASE2
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

Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.
Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima
American Journal of Medical Genetics. Part A. 2025-01-01
Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex.
S Katie Z Ihnen, Samuel Alperin, Jamie K Capal, Alexander L Cohen, Jurriaan M Peters
Epilepsia. 2025-01-01
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.
Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke
Computational and Structural Biotechnology Journal. 2024-12-01

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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Grant Support

Effects of 16p11.2 copy number variation on neuronal development and pathologyBOSTON CHILDREN'S HOSPITAL2023–2028
Translational Post-doctoral Training in NeurodevelopmentBOSTON CHILDREN'S HOSPITAL2017–2027
Translational Post-doctoral Training in NeurodevelopmentBOSTON CHILDREN'S HOSPITAL2017–2027
Translational Post-doctoral Training in NeurodevelopmentBOSTON CHILDREN'S HOSPITAL2017–2027
Translational Post-doctoral Training in NeurodevelopmentBOSTON CHILDREN'S HOSPITAL2017–2027
Translational Post-doctoral Training in NeurodevelopmentBOSTON CHILDREN'S HOSPITAL2017–2027
Translational Post-doctoral Training in NeurodevelopmentBOSTON CHILDREN'S HOSPITAL2017–2027
Gene Therapy for Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)BOSTON CHILDREN'S HOSPITAL2024–2026
Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research CenterBOSTON CHILDREN'S HOSPITAL2021–2026
Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research CenterBOSTON CHILDREN'S HOSPITAL2021–2026
Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research CenterBOSTON CHILDREN'S HOSPITAL2021–2026
Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research CenterBOSTON CHILDREN'S HOSPITAL2021–2026
Boston Children's Hospital/HMS Intellectual and Developmental Disabilities Research CenterBOSTON CHILDREN'S HOSPITAL2021–2026
Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations - supplement #3BOSTON CHILDREN'S HOSPITAL2024–2025
Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations - supplement #3BOSTON CHILDREN'S HOSPITAL2024–2025
Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations - supplement #3BOSTON CHILDREN'S HOSPITAL2024–2025
Developmental Synaptopathies Associated with TSC,PTEN and SHANK3 Mutations - supplement #2BOSTON CHILDREN'S HOSPITAL2014–2025
Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 MutationsBOSTON CHILDREN'S HOSPITAL2014–2025
Developmental Synaptopathies Associated with TSC,PTEN and SHANK3 Mutations - supplement #2BOSTON CHILDREN'S HOSPITAL2014–2025
Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 MutationsBOSTON CHILDREN'S HOSPITAL2014–2025