Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Elia M Pestana, Knight"'
Autor:
Sam Amin, Marie Monaghan, Angel Aledo-Serrano, Nadia Bahi-Buisson, Richard F. Chin, Angus J. Clarke, J. Helen Cross, Scott Demarest, Orrin Devinsky, Jenny Downs, Elia M. Pestana Knight, Heather Olson, Carol-Anne Partridge, Graham Stuart, Marina Trivisano, Sameer Zuberi, Tim A. Benke
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from in
Externí odkaz:
https://doaj.org/article/b229f548295447debb7effe4ff9a80e2
Autor:
Christian M Boßelmann, Alina Ivaniuk, Mark St John, Sara C Taylor, Gokul Krishnaswamy, Alex Milinovich, Costin Leu, Ajay Gupta, Elia M Pestana-Knight, Imad Najm, Dennis Lal
BackgroundUnderstanding disease progression, age-specific comorbidities, medical treatment patterns, and unmet needs can help improve the care pathway of individuals with rare genetic epilepsies. A matched longitudinal cohort study has not been perfo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6dae710ed8e5aa3c885f6383dceaa20
https://doi.org/10.1101/2023.05.27.23290634
https://doi.org/10.1101/2023.05.27.23290634
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
Autor:
Paul M Bakaki, Alexis Horace, Neal Dawson, Almut Winterstein, Jennifer Waldron, Jennifer Staley, Elia M Pestana Knight, Sharon B Meropol, Rujia Liu, Hannah Johnson, Negar Golchin, James A Feinstein, Shari D Bolen, Lawrence C Kleinman
Publikováno v:
PLoS ONE, Vol 13, Iss 11, p e0208047 (2018)
ObjectivesLack of consensus regarding the semantics and definitions of pediatric polypharmacy challenges researchers and clinicians alike. We conducted a scoping review to describe definitions and terminology of pediatric polypharmacy.MethodsMedline,
Externí odkaz:
https://doaj.org/article/1bd5722f7c8b43f78b40c8471f7055fa
Autor:
Jenny Downs, Helen Leonard, Alex A Aimetti, Kingsley Wong, Elia M. Pestana Knight, Mohammed Junaid
Publikováno v:
Epilepsia. 63:352-363
The study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f13e9576ba999dd9a3d8d72b0d5d7b2
https://doi.org/10.1111/epi.17125
https://doi.org/10.1111/epi.17125
Autor:
Elia M. Pestana Knight, Ifrah Zawar
Publikováno v:
Pediatric Neurology. 121:75-80
The purpose of this review is to provide a comprehensive update and highlight the distinct electroclinical features and discuss recent advances in the etiology, pathophysiology, and management strategies of epilepsy with eyelid myoclonia. Recent stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59a299b77d003aa776b14e2ba4a7ebd5
https://doi.org/10.1016/j.pediatrneurol.2020.11.018
https://doi.org/10.1016/j.pediatrneurol.2020.11.018
Autor:
Ifrah, Zawar, Bijina, Shreshtha, Daniela, Benech, Richard C, Burgess, Juan, Bulacio, Elia M Pestana, Knight
Publikováno v:
Journal of Clinical Neurophysiology.
Epilepsy with eyelid myoclonia (EMA) is characterized by eyelid myoclonia, eyelid closure sensitivity, and photosensitivity. EEG may manifest with frontal-predominant (FPEDs) or occipital-predominant epileptiform discharges (OPEDs). Data on clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e7434fd829da063bc48653724d0712
https://doi.org/10.1097/wnp.0000000000000942
https://doi.org/10.1097/wnp.0000000000000942
Autor:
Elia M. Pestana Knight, Jayanti Mani
Publikováno v:
Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 39(7)
The initial description of infantile spasms and its association to developmental abnormalities was attributed to Dr. Williams J. West in 1841 but the clinical scenario at the time had also been seen by other physicians. French physician Henry Gastaut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::098b6e810bceb98fa64837a710d888f3
https://pubmed.ncbi.nlm.nih.gov/35323128
https://pubmed.ncbi.nlm.nih.gov/35323128
Autor:
Jessica R. Fesler, Deepak Lachhwani, Lara Jehi, Dileep Nair, Vineet Punia, MaryAnn Mays, Anne E. Belcher, Elia M. Pestana Knight, Andreas V. Alexopoulos, Ahsan N.V. Moosa
Publikováno v:
Neurol Clin Pract
ObjectiveTo determine whether a pocket card treatment algorithm improves the early treatment of status epilepticus and to assess its utilization and retention in clinical practice.MethodsMultidisciplinary care teams participated in video-recorded sta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667ad2f29dfc86a8c3dab38f4a52033f
https://europepmc.org/articles/PMC8610498/
https://europepmc.org/articles/PMC8610498/
Publikováno v:
Neurol Clin Pract
Eyelid myoclonia with absences (EMA) or Jeavons Syndrome is an idiopathic generalized epilepsy (IGE) characterized by eyelid myoclonia with or without absences, eye-closure elicited EEG paroxysms (generalized polyspikes or spike-wave-complexes) and p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5cd82422e7141a78902c73654a8bd4c
https://europepmc.org/articles/PMC8610539/
https://europepmc.org/articles/PMC8610539/