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1
المؤلفون: Irfan Ali, Kimberly M. Houck, Krystal Sully
المصدر: Journal of Pediatric Epilepsy. 12:041-049
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1e8b4d13068b72c53063e1ce110c7cefTest
https://doi.org/10.1055/s-0042-1760293Test -
2
المؤلفون: Vijay M. Ravindra, Patrick J. Karas, Tyler T. Lazaro, Rohini Coorg, Al-Wala Awad, Ilana Patino, Emily E. McClernon, Dave Clarke, Laura Cairampoma Whitehead, Anne Anderson, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Audrey Nath, Michael Quach, James Riviello, Elaine S. Seto, Krystal Sully, Latanya Agurs, Sonali Sen, Maureen Handoko, Melissa LoPresti, Irfan Ali, Daniel J. Curry, Howard L. Weiner
المصدر: Neurosurgery. 92:398-406
مصطلحات موضوعية: Surgery, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::09ec7d03e4a56347eb6f55ba11864873Test
https://doi.org/10.1227/neu.0000000000002214Test -
3The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
المؤلفون: Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle
المصدر: BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instnameمصطلحات موضوعية: Arthrogryposis, Epilepsy, Movement Disorders, gain of function, Migraine with Aura, Infant, Newborn, Infant, Epilepsies, Myoclonic, arthrogryposis, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Gain of Function Mutation, epilepsy, Humans, SCN1A, movement disorder, Neurology (clinical), Spasms, Infantile
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d78f9a1dfb34105b40b0c635c1e599Test
https://doi.org/10.1093/brain/awac210Test