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Author Details

Russell P Saneto
4Center for Integrated Brain Research, Seattle Children's Hospital
1979
131
38
PMIDPaper TitleJournal TitlePublished Year
36528028Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.Am J Hum Genet2023
37770714Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?Neurotherapeutics2023
37310054Clinical outcomes of pediatric hemispherectomy following unsuccessful subhemispheric resection for refractory epilepsy: a case review study.J Neurosurg Pediatr2023
37268435Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.Neurology2023
36915141Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.Orphanet J Rare Dis2023
36868207Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.Am J Hum Genet2023
34237354Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies.J Am Acad Dermatol2022
35775081Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease.Front Mol Biosci2022
35441706A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.Epilepsia2022
35606253Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).Mol Genet Metab2022
35602653Disruption of cellular iron homeostasis by <i>IREB2</i> missense variants causes severe neurodevelopmental delay, dystonia and seizures.Brain Commun2022
35355055Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.Brain2022
36471344Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.Orphanet J Rare Dis2022
36137349Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study.Pediatr Neurol2022
35901731Precision medicine in pediatric temporal epilepsy surgery: optimization of outcomes through functional MRI memory tasks and tailored surgeries.J Neurosurg Pediatr2022
34931062Characterization of a patient-derived variant of GPX4 for precision therapy.Nat Chem Biol2022
33205886The spectrum of brain malformations and disruptions in twins.Am J Med Genet A2021
33894360Homoplasmy of the m. 8993 T&gt;G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.Mitochondrion2021
34537627Pediatric hemispherectomy outcome: Adaptive functioning, intelligence, and memory.Epilepsy Behav2021
33984120Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation.Invest Ophthalmol Vis Sci2021
33029936Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.Am J Med Genet A2021
32371820Hypermetabolic Syndrome and Dyskinesia After Neurologic Surgery for Labrune Syndrome: A Case Report.A A Pract2020
31903733Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.Mol Genet Genomic Med2020
31917109Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.Mol Genet Metab2020
33426505Mitochondrial diseases: expanding the diagnosis in the era of genetic testing.J Transl Genet Genom2020
32337332Mitochondrial diseases in North America: An analysis of the NAMDC Registry.Neurol Genet2020
32119035Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial.JAMA Neurol2020
30921410Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.PLoS One2019
31653361Fatigue in primary genetic mitochondrial disease: No rest for the weary.Neuromuscul Disord2019
31181428Immediate outcomes in early life epilepsy: A contemporary account.Epilepsy Behav2019
31339419Epileptic Spasms Predict Poor Epilepsy Outcomes After Perinatal Stroke.J Child Neurol2019
29099351Corticospinal tract atrophy and motor fMRI predict motor preservation after functional cerebral hemispherectomy.J Neurosurg Pediatr2018
30089657Neuroimaging of Early Life Epilepsy.Pediatrics2018
30456170Epileptic spasms as the presenting seizure type in a patient with a new "O" of TORCH, congenital Zika virus infection.Epilepsy Behav Case Rep2018
30316150Cognitive characteristics of mitochondrial diseases in children.Epilepsy Behav2018
29724763β-Hydroxybutyrate Detection with Proton MR Spectroscopy in Children with Drug-Resistant Epilepsy on the Ketogenic Diet.AJNR Am J Neuroradiol2018
29518120Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.PLoS One2018
29681094A neurodegenerative mitochondrial disease phenotype due to biallelic loss-of-function variants in PNPLA8 encoding calcium-independent phospholipase A2γ.Am J Med Genet A2018
27777328Focal Seizures in Patients With SCN1A Mutations.J Child Neurol2017
28254350The current status of artisanal cannabis for the treatment of epilepsy in the United States.Epilepsy Behav2017
28942795Genetics of Mitochondrial Disease.Adv Genet2017
29105055The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium.Epilepsia2017
29048727Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.Am J Med Genet A2017
29215644Response to Newman et al.Genet Med2017
28807611Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus.Pediatr Neurol2017
28749475Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genet Med2017
28759667Early-Life Epilepsies and the Emerging Role of Genetic Testing.JAMA Pediatr2017
27312126Solid organ transplantation in primary mitochondrial disease: Proceed with caution.Mol Genet Metab2016
26614002Neuropsychiatric Features in Primary Mitochondrial Disease.Neurol Clin2016
27555780Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team.J Multidiscip Healthc2016
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Collaborators

University of Washington
Co-authored papers 20
Akron Children's Hospital
Co-authored papers 15
Center for Pediatric Neurosciences, Cleveland Clinic
Co-authored papers 13
University of Washington
Co-authored papers 13
University of California
Co-authored papers 12
The University of Texas McGovern Medical School
Co-authored papers 10
Seattle Children's Hospital
Co-authored papers 9
Baylor College of Medicine
Co-authored papers 9
Section of Clinical Genetics and Metabolism, University of Colorado
Co-authored papers 8
Lucile Packard Children's Hospital and Stanford University
Co-authored papers 8
Children's Hospital of Philadelphia
Co-authored papers 8
McMaster University Medical Center
Co-authored papers 7
Mayo Clinic
Co-authored papers 7
Massachusetts General Hospital for Children
Co-authored papers 7
Children's National Hospital and Center for Neuroscience
Co-authored papers 7
Stanford University School of Medicine
Co-authored papers 7
Seattle Children's Hospital.
Co-authored papers 6
Cornell University and New York-Presbyterian Hospital
Co-authored papers 6
Massachusetts General Hospital
Co-authored papers 6
Harvard Medical School
Co-authored papers 6
University of Washington Medical Center
Co-authored papers 5
Seattle Children's Hospital
Co-authored papers 5
Seattle Children's Hospital
Co-authored papers 5
University of California, San Diego School of Medicine
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University of Minnesota
Co-authored papers 5
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 5
Rady Children's Institute for Genomic Medicine
Co-authored papers 4
Seattle Children's Hospital
Co-authored papers 4
School of Clinical Medicine, University of Cambridge
Co-authored papers 3
University of Melbourne, The Royal Children's Hospital
Co-authored papers 3