Zobrazeno 1 - 10
of 266
pro vyhledávání: '"Elaine C, Wirrell"'
Autor:
Elaine C. Wirrell, Lieven Lagae, Ingrid E. Scheffer, J. Helen Cross, Nicola Specchio, Adam Strzelczyk
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1643-1657 (2024)
Abstract Fenfluramine (FFA), an antiseizure medication (ASM) with serotonergic and sigma‐1 receptor activity, is used to manage patients with developmental and epileptic encephalopathies (DEEs). It is approved in the US for treating seizures associ
Externí odkaz:
https://doaj.org/article/3dc1b09b0bfc46e7857e957e7df05a9b
Autor:
Ersida Buraniqi, Julie B. Guerin, Kai J. Miller, Jamie J. Van Gompel, Karl Krecke, Elaine C. Wirrell, Katherine C. Nickels, Eric T. Payne, Lily Wong-Kisiel
Publikováno v:
Pediatric Neurology. 142:32-38
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebc86ddeae1e80acba44d32c05d75956
https://doi.org/10.1016/j.pediatrneurol.2022.12.015
https://doi.org/10.1016/j.pediatrneurol.2022.12.015
Publikováno v:
Expert Review of Neurotherapeutics. 23:297-309
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73593ea50d1ea15cd26bcc32142393e2
https://doi.org/10.1080/14737175.2023.2195550
https://doi.org/10.1080/14737175.2023.2195550
Publikováno v:
Neurologic Clinics. 40:831-847
Autism spectrum disorder (ASD), was first described in 1943 as a disorder consisting of a triad of qualitative impairments of social interaction, communication and restricted repetitive patterns of behavior, interests, and activities. The relationshi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d719ebb2364e161afd17ff59b5caf773
https://doi.org/10.1016/j.ncl.2022.03.011
https://doi.org/10.1016/j.ncl.2022.03.011
Autor:
Mai-Lan, Ho, Elaine C, Wirrell, Kalliopi, Petropoulou, Ai, Sakonju, Dorna, Chu, Guillermo, Seratti, Susan, Palasis
Publikováno v:
Journal of Child Neurology. 37:984-991
Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a very rare neurodegenerative lysosomal storage disorder. Progression is rapid and irreversible, making early diagnosis crucial for timely treatment. A group of pediatric neurologists and neuror
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2224a2859a53323bc749f0da562092d7
https://doi.org/10.1177/08830738221128773
https://doi.org/10.1177/08830738221128773
Autor:
Jacqueline A. French, Elena Cleary, Dennis Dlugos, Gail Farfel, Kathleen Farrell, Barry Gidal, Caitlin L. Grzeskowiak, Rachel Gurrell, Cynthia Harden, Tracy J. Stalvey, Julia Tsai, Elaine C. Wirrell, David Blum, Nathan Fountain
Publikováno v:
Epilepsia. 63:2664-2670
Drug treatment for children with epilepsy should, ideally, be governed by evidence from adequate and well-controlled clinical studies. However, these studies are difficult to conduct, and so direct evidence supporting the informed use of specific dru
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459eca2cf7adb51471429476cf52ba5d
https://doi.org/10.1111/epi.17366
https://doi.org/10.1111/epi.17366
Autor:
Joseph Sullivan, Elaine C. Wirrell
Publikováno v:
Epilepsy Currents. 23:4-7
Dravet syndrome (DS) is a drug-resistant, early-onset, developmental and epileptic encephalopathy where there have been many recently approved therapies with many more in development. With the availability of more syndrome specific treatment options
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::917d8bc5ff5aa3e28f3cf1fec24ebae1
https://doi.org/10.1177/15357597221106281
https://doi.org/10.1177/15357597221106281
Autor:
Nicola Specchio, Elaine C. Wirrell, Ingrid E. Scheffer, Rima Nabbout, Kate Riney, Pauline Samia, Marilisa Guerreiro, Sam Gwer, Sameer M. Zuberi, Jo M. Wilmshurst, Elissa Yozawitz, Ronit Pressler, Edouard Hirsch, Samuel Wiebe, Helen J. Cross, Emilio Perucca, Solomon L. Moshé, Paolo Tinuper, Stéphane Auvin
Publikováno v:
Epilepsia. 63:1398-1442
The 2017 International League Against Epilepsy classification has defined a three‐tier system with epilepsy syndrome identification at the third level. Although a syndrome cannot be determined in all children with epilepsy, identification of a spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5122aeb09257785eaedb2dd57ce60b1d
https://doi.org/10.1111/epi.17241
https://doi.org/10.1111/epi.17241
Autor:
Elia M Pestana Knight, Sam Amin, Nadia Bahi-Buisson, Tim A Benke, J Helen Cross, Scott T Demarest, Heather E Olson, Nicola Specchio, Thomas R Fleming, Alex A Aimetti, Maciej Gasior, Orrin Devinsky, Elena Belousova, Oleg Belyaev, Bruria Ben-Zeev, Andreas Brunklaus, Michael A. Ciliberto, Francesca Darra, Ronald Davis, Valentina De Giorgis, Olga Doronina, Michael Fahey, Renzo Guerrini, Peter Heydemann, Olga Khaletskaya, Pawel Lisewski, Eric D. Marsh, Ahsan N. Moosa, Scott Perry, Sunny Philip, Rajsekar R. Rajaraman, Ben Renfroe, Russell P. Saneto, Ingrid E. Scheffer, Yoshimi Sogawa, Bernhardt Suter, Matthew T. Sweney, Daniel Tarquinio, Pierangelo Veggiotti, Geoff Wallace, Judy Weisenberg, Angus Wilfong, Elaine C. Wirrell, Muhammad Zafar, Marta Zolnowska
Publikováno v:
The Lancet Neurology. 21:417-427
CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and epileptic encephalopathy characterised by severe global developmental impairment and seizures that can begin in the first few months after birth and are often treatment refractory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22b17fab27a5bde8c7c1a684f969528
https://doi.org/10.1016/s1474-4422(22)00077-1
https://doi.org/10.1016/s1474-4422(22)00077-1
Publikováno v:
Epilepsia
Infants with focal-onset epilepsy are an understudied population, requiring additional evaluation for clinical assessment and prognostication. Our goal was to characterize the etiology and natural history of infantile-onset focal epilepsy.We retrospe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be95e11c900234444c6ac28f572ead5d
https://doi.org/10.1111/epi.17181
https://doi.org/10.1111/epi.17181