TristanTimothySandsMDPhD

PubMed

• Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
  Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz...> ;NPJ Genomic Medicine. 2024 Mar 1
• Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus in Children.
  Katrina Peariso, Ravindra Arya, Tracy Glauser, Nicholas S Abend, Cristina Barcia Aguilar, Marta Amengual-Gual, Anne Anderson, Brian L Appavu, J Nicholas Brenton, Jessi...> ;Neurology. 2023 Aug 1
• 10 citations
  Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
  Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lu, Nicole M Walley, Anne F Buckley, Tristan T Sands, Cigdem I Akman, Mohamad A Mikati, Guy M McKhann, J...> ;Brain. 2022 Aug 27
• 6 citations
  Clinical utility of exome sequencing in a pediatric epilepsy cohort.
  Jordana L Graifman, Natalie C Lippa, Maureen S Mulhern, Amanda L Bergner, Tristan T Sands> ;Epilepsia. 2023 Apr 1
• 11 citations
  Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
  Palmer, E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuray...> ;Molecular Psychiatry. 2023 Feb 1
• 2 citations
  Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of.
  Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla...> ;Neurology. 2023 Feb 7
• 13 citations
  KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
  Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, Willia...> ;Ebiomedicine. 2022 Jul 1
• 3 citations
  Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.
  Natalie Lippa, Louise Bier, Anya Revah-Politi, Halie May, Sulagna Kushary, Natalie Vena, Jessica L Giordano, Hila Milo Rasouly, Enrico Cocchi, Tristan T Sands, Ronald ...> ;Genetics in Medicine. 2022 Apr 1
• 3 citations
  The Role of Stereo-electroencephalography to localize the Epileptogenic Zone in Children with Nonlesional Brain Magnetic Resonance Imaging
  Woojoong Kim, Min Y. Shen, Frank A. Provenzano, Daniel B. Lowenstein, Danielle K. McBrian, Arthur M. Mandel, Tristan T. Sands, James J. Riviello, Guy M. McKhann, Neil ...> ;Epilepsy Research. 2021 Nov 24
• 5 citations
  Benzodiazepine administration patterns before escalation to second-line medications in pediatric refractory convulsive status epilepticus.
  Theodore Sheehan, Marta Amengual-Gual, Alejandra Vasquez, Nicholas S. Abend, Anne E. Anderson, Brian Appavu, Ravindra Arya, Cristina Barcia Aguilar, J. Nicholas Brento...> ;Epilepsia. 2021 Aug 21
• 5 citations
  Factors associated with long-term outcomes in pediatric refractory status epilepticus.
  Marina Gaínza-Lein, Cristina Barcia Aguilar, Juan Piantino, Kevin E. Chapman, Iván Sánchez Fernández, Marta Amengual-Gual, Anne E. Anderson, Brian Appavu, Ravindra Ary...> ;Epilepsia. 2021 Jul 12
• Time to Treatment in Pediatric Convulsive Refractory Status Epilepticus: The Weekend Effect.
  Cristina Barcia Aguilar, Marta Amengual-Gual, Iván Sánchez Fernández, Nicholas S. Abend, Anne E. Anderson, Brian Appavu, Ravindra Arya, J. Nicholas Brenton, Jessica L....> ;Pediatric Neurology. 2021 Jul 1
• 27 citations
  Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.
  Marie-Coralie Cornet, Valeria Morabito, Damien Lederer, Hannah C. Glass, Susana Ferrao Santos, Adam L. Numis, Donna M. Ferriero, Tristan T. Sands, Maria Roberta Cilio> ;Epilepsia. 2021 Jun 21
• 8 citations
  Super-Refractory Status Epilepticus in Children: A Retrospective Cohort Study.
  Alejandra Vasquez, Raquel Farias-Moeller, Iván Sánchez-Fernández, Nicholas S. Abend, Marta Amengual-Gual, Anne E. Anderson, Ravindra Arya, James Nicholas Brenton, Jess...> ;Pediatric Critical Care Medicine. 2021 Jun 14
• 13 citations
  CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
  Michelle E. Ernst, Evan H. Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Nicholas Stong, Maureen S. Mulhern, Sulagna Kushary, Cigdem I. Akman, Erin L. Heinzen, Ray...> ;Epilepsia. 2021 May 26
• 3 citations
  Tracking Multisite Seizure Propagation Using Ictal High-Gamma Activity.
  Steven Tobochnik, Lisa M. Bateman, Cigdem I. Akman, Deepti Anbarasan, Carl W. Bazil, Michelle Bell, Hyunmi Choi, Neil A. Feldstein, Paul F. Kent, Danielle McBrian, Guy...> ;Journal of Clinical Neurophysiology. 2021 Feb 8
• 6 citations
  A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
  Francesco Miceli, Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Arthur M. Mandel, Natalie Lippa, Louise Bier, David Goldstein, Edward...> ;Frontiers in Physiology. 2020 Sep 4
• 14 citations
  Association of guideline publication and delays to treatment in pediatric status epilepticus.
  Iván Sánchez Fernández, Nicholas S. Abend, Marta Amengual-Gual, Anne E. Anderson, Ravindra Arya, Cristina Barcia Aguilar, James Nicholas Brenton, Jessica L. Carpenter,...> ;Neurology. 2020 Sep 1
• 18 citations
  Rasmussen Encephalitis: An Update.
  Karla C. Cay-Martinez, Richard A. Hickman, Guy M. McKhann, Frank A. Provenzano, Tristan T. Sands> ;Seminars in Neurology. 2020 Mar 17
• 56 citations
  Autism and developmental disability caused by KCNQ3 gain-of-function variants.
  Tristan T. Sands, Francesco Miceli, Gaetan Lesca, Anita E. Beck, Lynette G. Sadleir, Daniel K. Arrington, Bitten Schönewolf-Greulich, Sébastien Moutton, Anna Lauritano...> ;Annals of Neurology. 2019 Jun 8
• The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.
  Epilepsy Genetics Initiative> ;Epilepsia. 2019-04-05
• 49 citations
  Long-Term Safety, Tolerability, and Efficacy of Cannabidiol in Children with Refractory Epilepsy: Results from an Expanded Access Program in the US.
  Tristan T. Sands, Shahryar Rahdari, Michael S. Oldham, Eduardo Caminha Nunes, Nicole Tilton, Maria Roberta Cilio> ;CNS Drugs. 2019 Jan 1
• 26 citations
  NBEA : Developmental disease gene with early generalized epilepsy phenotypes
  Maureen S. Mulhern, Constance T. R. M. Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James J. Riviello, Rob P.W. Rouhl, Marlies Kempers, Rolph P...> ;Annals of Neurology. 2018 Oct 25
• 29 citations
  The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
  Ingo Helbig, Erin Rooney Riggs, Carrie Anne Barry, Karl Martin Klein, David A. Dyment, Courtney Thaxton, Bekim Sadikovic, Tristan T. Sands, Jacy L. Wagnon, Khalida Lia...> ;Human Mutation. 2018 Nov 1
• 43 citations
  Refining the phenotype associated with GNB1 mutations : Clinical data on 18 newly identified patients and review of the literature
  Parisa Hemati, Anya Revah-Politi, Haim Bassan, Slavé Petrovski, Colleen G. Bilancia, Keri Ramsey, Nicole G. Griffin, Louise Bier, Megan T. Cho, Mónica Roselló, Sally A...> ;American Journal of Medical Genetics. Part A. 2018 Nov 1
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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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