MUSTAFA SAHIN

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Professor

Boston Children's Hospital

United States

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Professor Mustafa Sahin is affiliated with Boston Children's Hospital in the United States. His research focuses on neurodevelopmental disorders, particularly in relation to tuberous sclerosis complex and autism spectrum disorder. Recent publications include studies on adaptive functioning in children, outcomes from clinical trials, and advancements in gene therapy for neurodevelopmental conditions.

Recent Grants

Grant: Close

Brain Network Biomarkers of Epilepsy Development in TSC

Open Date: 2017-12-01

Close Date: 2018-11-30

Grant: Close

Translational Post-doctoral Training in Neurodevelopment

Open Date: 2017-07-01

Close Date: 2022-06-30

Grant: Close

PACT contract

Open Date: 2017-01-01

Close Date: 2019-11-01

Grant: Close

Brain Network Biomarkers of Epilepsy Development in TSC

Open Date: 2016-12-01

Close Date: 2017-11-30

Grant: Close

Boston Intellectual and Developmental Disabilities Research Center

Open Date: 2016-09-23

Close Date: 2021-05-31

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Collaborators (9)

Martina Bickley

UAB Health System

UNITED STATES

Professor

University of Pennsylvania

UNITED STATES

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MUSTAFA SAHIN

Research Interests

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About

Recent Grants

Articles (22)

Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without Seizures

Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study

Neurodevelopmental Outcomes from the PREVeNT Trial

Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome

Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial

AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

The role of TSC1 and TSC2 proteins in neuronal axons

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop

A Hybrid 2D‐to‐3D in vitro Differentiation Platform Improves Outcomes of Cerebral Cortical Organoid Generation in hiPSCs

Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis

Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial

Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex

Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies

Non-canonical functions of a mutant TSC2 protein in mitotic division

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder

Collaborators (9)

Martina Bickley

Marie Y. Davis

Jamie Capal

Kit Sing Au

Darcy Krueger

Marc Rothenberg

Aristides Hadjinicolaou

Joseph Buxbaum

Peter Merkel

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