Kellen Winden, MD, PhD

Neurologist, Department of Neurology
Instructor, Harvard Medical School
Kellen Winden, MD, PhD
NPI 1336414531
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Kellen Winden, MD, PhD

Neurologist, Department of Neurology
Instructor, Harvard Medical School

Medical Services

Programs & Services
Neurogenetics & Neurodevelopment Program
Tuberous Sclerosis Program
Neurology
Conditions & Treatments
Autism Spectrum Disorders
Epilepsy
Fragile X Syndrome
Phelan-McDermid Syndrome
PTEN Hamartoma Tumor Syndrome
Tuberous Sclerosis Complex (TSC)
Languages
English
Education
Undergraduate School
University of California at San Diego
2004
San Diego
CA
Graduate School
University of California at Los Angeles
2012
Los Angeles
CA
Medical School
University of California at Los Angeles
2012
Los Angeles
CA
Residency
Pediatrics
Boston Combined Residency Program (BCRP)
2014
Boston
MA
Residency
Child Neurology
Boston Combined Residency Program (BCRP)
2017
Boston
MA
Fellowship
Neurogenetics
Boston Children's Hospital
2020
Boston
MA
Certifications
American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
Professional History

Dr. Winden performed his PhD at UC Los Angeles studying gene expression changes due to epilepsy in rodent models. He then moved to Boston to do Child Neurology residency. He sees patients with rare neurogenetic disorders, and performs basic research into the cellular and molecular pathways that cause neurological disorders in models of Tuberous Sclerosis Complex.

Approach to Care
I specialize in seeing children with genetic causes of neurological disorders, especially autism spectrum disorder, epilepsy, and intellectual disability.

Publications

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. View Abstract
Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes. View Abstract
Using cortical organoids to understand the pathogenesis of malformations of cortical development. View Abstract
Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders. View Abstract
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. View Abstract
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. View Abstract
Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex. View Abstract
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia. View Abstract
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons. View Abstract
Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates. View Abstract
Arthritis flares mediated by tissue-resident memory T cells in the joint. View Abstract
Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts. View Abstract
16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. View Abstract
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. View Abstract
Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia. View Abstract
Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons. View Abstract
Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin. View Abstract
Abnormal mTOR Activation in Autism. View Abstract
Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex. View Abstract
Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy. View Abstract
Megalencephaly and Macrocephaly. View Abstract
Molecular alterations in areas generating fast ripples in an animal model of temporal lobe epilepsy. View Abstract
Stroke in primary hyperoxaluria type I. View Abstract
Human-specific transcriptional networks in the brain. View Abstract
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. View Abstract
Functional genomic analyses identify pathways dysregulated by progranulin deficiency, implicating Wnt signaling. View Abstract
Substrate sequence influences ?-secretase modulator activity, role of the transmembrane domain of the amyloid precursor protein. View Abstract
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. View Abstract
A systems level, functional genomics analysis of chronic epilepsy. View Abstract
Human-specific transcriptional regulation of CNS development genes by FOXP2. View Abstract
The organization of the transcriptional network in specific neuronal classes. View Abstract
A step-by-step approach to choosing an information system. View Abstract
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