Results 51 to 60 of about 8,702 (224)

Dental Implant for a Patient with Narcolepsy: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2020
Narcolepsy is a neurological disorder characterised by cataplexy, sleep paralysis and excessive daytime sleepiness. The literature on dental managements of patients with narcolepsy is lacking with no set guidelines for dental practitioners.
Hani Mawardi, Yasser Mahfouz, Siraj Dakhil, Mohammed Zahran, Lena Elbadawi   +4 more
doaj   +1 more source

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

Brazilian guidelines for the treatment of narcolepsy [PDF]

, 2010
Este artigo relata as conclusões da reunião de consenso com médicos especialistas sobre diagnóstico de narcolepsia baseada na revisão dos artigos sobre narcolepsia listados no Medline entre 1980 e 2010.
Alves, Rosana Cardoso, Alóe, Flávio, Araújo, John Fontenele, Azevedo, Alexandre, Bacelar, Andrea, Bezerra, Márcio, Bittencourt, Lia Rita Azeredo, Bustamante, Guilherme, Cardoso, Tânia Aparecida Marchiori de Oliveira, Eckeli, Alan Luiz, Fernandes, Regina Maria França, Goulart, Leonardo, Hasan, Rosa, Lopes, Maria Cecília, Minhoto, Gisele Richter, Moraes, Walter, Moreira, Gustavo Antônio, Pachito, Daniela, Pedrazolli Neto, Mário, Pinto Júnior, Luciano Ribeiro, Poyares, Dalva Lúcia Rollemberg, Pradella-Hallinan, Márcia, Prado, Lucila, Rizzo, Geraldo, Rodrigues, Raimundo Nonato Delgado, Roitman, Israel, Sander, Heidi Haueisen, Silva, Ademir Baptista, Tavares, Stella Márcia Azevedo   +28 more
core   +4 more sources

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

Recurrent Laughter-induced Syncope [PDF]

, 2012
Syncope is a common presenting complaint in Neurology clinics or Emergency departments, but its causes are sometimes difficult to diagnose. Apart from vasovagal attacks, other benign, neurally mediated syncopes include “situational” syncopes, which occur
Gaitatzis, A, Petzold, A
core   +1 more source

Automatic detection of cataplexy [PDF]

Sleep Medicine, 2018
Although being the most specific symptom of narcolepsy type 1 (NT1), cataplexy is currently investigated by clinical interview only, with potential diagnostic pitfalls. Our study aimed at testing the accuracy of an automatic video detection of cataplexy in NT1 patients vs.
Bartolini, Ilaria, Pizza, Fabio, Di Luzio, Andrea, Neccia, Giulia, Antelmi, Elena, Vandi, Stefano, Plazzi, Giuseppe   +6 more
openaire   +2 more sources

Ageing‐related modification of sleep and breathing in orexin‐knockout narcoleptic mice

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Narcolepsy type‐1 (NT1) is a lifelong sleep disease, characterised by impairment of the orexinergic system, with a typical onset during adolescence and young adulthood. Since the wake–sleep cycle physiologically changes with ageing, this study aims to compare sleep patterns between orexin‐knockout (KO) and wild type (WT) control mice at ...
Stefano Bastianini, Sara Alvente, Chiara Berteotti, Viviana Lo Martire, Gabriele Matteoli, Elena Miglioranza, Alessandro Silvani, Giovanna Zoccoli   +7 more
wiley   +1 more source

Narcolepsy [PDF]

, 2007
BACKGROUND: Narcolepsy is a chronic neurological syndrome with prevalence between 0.018% and 0.040% without important ethnic differences. Narcolepsy is characterized by excessive daytime sleepiness and cataplexy. The pathophysiology of the illness is not
Bittencourt, Lia Rita Azeredo, Coelho, Fernando Morgadinho Santos, Elias, Rosilene Motta, Pradella-Hallinan, Márcia Lurdes de Cássia, Tufik, Sergio   +4 more
core   +3 more sources

Baclofen for narcolepsy with cataplexy: two cases

Nature and Science of Sleep, 2015
Elliott Kyung Lee,1,2 Alan Bruce Douglass1,2 1Department of Psychiatry, Faculty of Medicine, Institute of Mental Health Research, University of Ottawa, 2Royal Ottawa Mental Health Center, Ottawa, ON, Canada Abstract: Narcolepsy is a disabling sleep ...
Lee EK, Douglass AB
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