Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy
Punetha, Jaya, Karaca, Ender, Gezdirici, Alper, Lamont, Ryan E., Pehlivan, Davut, Marafi, Dana, Appendino, Juan P., Hunter, Jill V., Akdemir, Zeynep C., Fatih, Jawid M., Jhangiani, Shalini N., Gibbs, Richard A., Innes, A. Micheil, Posey, Jennifer E., Lupski, James R.
Published in Annals of clinical and translational neurology (01.08.2019)
Published in Annals of clinical and translational neurology (01.08.2019)
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The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy
Cherian, Christina, Appendino, Juan P., Ashtiani, Setareh, Federico, Paolo, Molnar, Christine P., Kerr, Marina, Khan, Aneal, Au, Ping Yee Billie, Klein, Karl Martin
Published in Journal of neurology (01.04.2022)
Published in Journal of neurology (01.04.2022)
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KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Yoganathan, Sangeetha, Whitney, Robyn, Thomas, Maya, Danda, Sumita, Chettali, Akbar Mohamed, Prasad, Asuri N., Farhan, Sali M. K., AlSowat, Daad, Abukhaled, Musaad, Aldhalaan, Hesham, Gowda, Vykuntaraju K., Kinhal, Uddhava V., Bylappa, Arun Y., Konanki, Ramesh, Lingappa, Lokesh, Parchuri, Bindu Madhavi, Appendino, Juan P., Scantlebury, Morris H., Cunningham, Jessie, Hadjinicolaou, Aristides, El Achkar, Christelle Moufawad, Kamate, Mahesh, Menon, Ramshekhar N., Jose, Manna, Riordan, Gillian, Kannan, Lakshminarayanan, Jain, Vivek, Manokaran, Ranjith Kumar, Chau, Vann, Donner, Elizabeth J., Costain, Gregory, Minassian, Berge A., Jain, Puneet
Published in Epilepsia (Copenhagen) (01.03.2024)
Published in Epilepsia (Copenhagen) (01.03.2024)
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Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates
Pijpers, Judith A., Au, Ping Yee Billie, Weeke, Lauren C., Vein, Alla A., Smit, Liesbeth S., Vilan, Ana, Jacobs, Elke, de Vries, Linda S., Steggerda, Sylke J., Cilio, Maria Roberta, Carapancea, Evelina, Cornet, Marie-Coralie, Appendino, Juan P., Peeters-Scholte, Cacha M.P.C.D.
Published in Seizure (London, England) (01.08.2023)
Published in Seizure (London, England) (01.08.2023)
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Removing barriers to accessing medical cannabis for paediatric patients
Huntsman, Richard J, Elliott, Jesse, Lewis, Evan, Moore-Hepburn, Charlotte, Alcorn, Jane, Mansell, Holly, Appendino, Juan P, Bélanger, Richard E, Corley, Scott, Crooks, Bruce, Denny, AnneMarie M, Finkelstein, Yaron, Finley, Allen, Fung, Ryan, Gilpin, Andrea, Litalien, Catherine, Jacobs, Julia, Oberlander, Timothy F, Palm, Ashley, Palm, Jacob, Polewicz, Monika, Quinn, Declan, Rassekh, S Rod, Repetski, Alexander, Rieder, Michael J, Robson-McKay, Amy, Seifert, Blair, Shackelford, Alan, Siden, Hal, Szafron, Michael, ‘t Jong, Geert, Vaillancourt, Régis, Kelly, Lauren E
Published in Paediatrics & child health (01.02.2024)
Published in Paediatrics & child health (01.02.2024)
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Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I
Maghera, Jasmine, Li, Jingru, Lamothe, Shawn M., Braun, Marvin, Appendino, Juan P., Au, P. Y. Billie, Kurata, Harley T.
Published in Epilepsia open (01.12.2020)
Published in Epilepsia open (01.12.2020)
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