Tristan Timothy Sands MD PhD

PubMed

• Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy.
  Marlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, Ricardo Morcos, Ilakkiah Chandran
  Epilepsia. 2025-03-14
• RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.
  Avinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T Sands
  Nature Communications. 2025-02-17
• Update on neonatal and infantile onset epilepsies.
  Evelina Carapancea, Tristan T Sands, Maria Roberta Cilio
  Current Opinion in Pediatrics. 2025-02-11

Journal Articles

• Long-Term Safety, Tolerability, and Efficacy of Cannabidiol in Children with Refractory Epilepsy: Results from an Expanded Access Program in the US  
  Shahryar Rahdari, Nicole Tilton, Tristan T Sands, CNS Drugs
• The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the Divide Between Clinical Domain Knowledge and Formal Gene Curation Criteria  
  Ghayda Mirzaa, Kristen Park, Tristan T Sands, Erika Axeen, Tanya M Bardakjian, Annapurna Poduri, Katherine L Helbig, Heather C Mefford, Human Mutation
• NBEA: Developmental Disease Gene with Early Generalized Epilepsy Phenotypes  
  Mary K Kukolich, Danielle McBrian, Heather C Mefford, Elaine Pereira, Tristan T Sands, James Riviello, Annals of Neurology
• Refining the Phenotype Associated with GNB1 Mutations: Clinical Data on 18 Newly Identified Patients and Review of the Literature  
  Vinodh Narayanan, Nancy J Mendelsohn, Ana Bircher, Tristan T Sands, Alejandro Iglesias, American Journal of Medical Genetics Part A
• Lack of Response to Quinidine in KCNT1‐Related Neonatal Epilepsy  
  Adam L Numis, Tristan T Sands, Epilepsia
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Books/Book Chapters

• Merritt’s Neurology 
  Chapter: Seizures and Epilepsies in Neonates and Children 
  Sands TT & Cilio MREdition 14,
• Swaiman's Pediatric Neurology 
  Chapter: Genetics of Epilepsy 
  Cilio MR & Sands TTEdition 6,2017
• Workbook in Practical Neonatology 
  Chapter: Neonatal Seizures 
  Sands TT & Akman CIEdition 6,2019
• Neurology: Neonatology Questions and Controversies 
  Chapter: Neonatal Onset Epilepsies 
  Cilio MR & Sands TTEdition 3,2018
• Pediatric Demyelinating Diseases of the Central Nervous System and Their Mimics: A Case-Based Clinical Guide 
  Chapter: NMDA Receptor Antibody Encephalitis 
  Sands TT, Kedzierski K, Makhani N.Edition 1,2017
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