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Neurocritical Care|August 14, 2024
Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 YearsKuntal Sen, Dana Harrar, Nicole Pariseau, et al.
Pediatric Neurology|September 27, 2023
Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement DisordersMarina Eskandar, Laura Tochen, Mi Ran Shin, et al.
Pediatric Neurology|May 24, 2024
Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial DisorderElizabeth Pickup, Steven A Moore, Pim Suwannarat, et al.
Pediatric Neurology|November 13, 2024
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular SpectrumKuntal Sen, Alonso Zea Vera, Anna Puronurmi, et al.
Frontiers in Cell and Developmental Biology|January 10, 2022
Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh SyndromeMartine Uittenbogaard, Kuntal Sen, Matthew Whitehead, et al.
Journal of Child Neurology|November 12, 2025
Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic ConsiderationsErsida Buraniqi, Hsuan-Tung Lee, Kuntal Sen, et al.
Molecular Genetics & Genomic Medicine|April 18, 2024
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study databaseKuntal Sen, Rima Izem, Yuelin Long, et al.
Therapeutic Innovation & Regulatory Science|April 26, 2022
Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare DiseasesCarla Epps, Ralph Bax, Alysha Croker, et al.
Molecular Genetics and Metabolism Reports|November 24, 2022
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signatureJessica R C Priestley, Lisa M Pace, Kuntal Sen, et al.
Pediatric Neurology|May 11, 2026
Emerging Topics in Neurogenomics: Summary From Inaugural Child Neurology Society Genetics SummitKuntal Sen, Rachel Gottlieb-Smith, Srika Amin, et al.
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