Results 31 to 40 of about 5,885 (217)

Pharmacological management of narcolepsy with and without cataplexy.

, 2017
INTRODUCTION Narcolepsy is an orphan neurological disease and presents with sleep-wake, motoric, neuropsychiatric and metabolic symptoms. Narcolepsy with cataplexy is most commonly caused by an immune-mediated process including genetic and ...
Kallweit, Ulf, Bassetti, Claudio, Ulf Kallweit, Claudio L. Bassetti   +3 more
core   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +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

Salivary biomarkers in sleep‐related disorders

Sleep Research, EarlyView.
Abstract The exploration of salivary biomarkers has emerged as a promising avenue in the diagnosis and management of sleep‐related disorders, such as obstructive sleep apnea (OSA), insomnia, and sleep deprivation. Saliva is a noninvasive biofluid that contains a wealth of biological markers, reflecting both local and systemic physiological changes ...
Chuan Xiang Li, Yi Wang, Ying Ni Lin, Jun Qi Lin, Ya Ru Yan, Xian wen Sun, Liu Zhang, Shi Qi Li, Ning Li, Qing Yun Li   +9 more
wiley   +1 more source

Cerebrospinal fluid orexin testing in Australians with narcolepsy type 1

Internal Medicine Journal, EarlyView.
Abstract A clinical diagnosis of narcolepsy type 1 can be challenging, particularly in relation to cataplexy. Despite its specificity, cerebrospinal fluid (CSF) orexin testing is under‐utilised in Australasia. We describe the use of CSF orexin testing in 15 clinically indicated patients from two sleep centres, highlighting its utility in the ...
Mario Fernando, Gianluca Cotta, Samantha Kung, Grace Garden, Jian Eu Tai, Elie Matar, Brendon Yee, Claire Ellender, Sheila Sivam   +8 more
wiley   +1 more source

Carbamazepine as a Treatment for Cataplexy [PDF]

Sleep, 1996
Cataplexy is a common symptom associated with narcolepsy. We evaluated a 51-year-old female who developed symptoms of progressive daytime sleepiness with cataplexy. The diagnosis of narcolepsy was confirmed by overnight polysomnogram and was consistent with results of a multiple sleep latency study, and episodes of cataplexy were documented by video ...
B V, Vaughn, O F, D'Cruz
openaire   +2 more sources

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

Demographic, clinical, and polysomnographic characteristics of patients with narcolepsy-cataplexy, narcolepsy without cataplexy, and healthy controls.

, 2013
Data are presented as means±standard deviations. PSG refers to Polysomnography; MSLT, Multiple Sleep Latency Test; SOREMPs, Sleep onset Rapid Eye Movement Periods; REM, Rapid Eye Movement; SWS, Slow Wave Sleep. SaO2: Oxygen saturation.aOne-way ANOVA.bChi-
Sabine Scholz (317395), Valérie Cochen De Cock (324965), Muriel Croisier Langenier (324964), Sophie Bayard (324963), Yves Dauvilliers (213843)   +4 more
core   +1 more source

The use of citalopram for the treatment of cataplexy^$

Sleep Science, 2014
This is a series of cases describing the use of citalopram for the treatment of cataplexy in patients with narcolepsy. Cataplexy is the most specific symptom of narcolepsy, being characterized by a sudden and temporary loss of muscle tonus, triggered by ...
Hassana de Almeida Fonseca, Danielle Antunes Lopes, Danielle Pereira, Danilo Anunciatto Sguillar, Eduardo Lopes, Nilce Sanny Costa da Silva Behrens, Taís Figueiredo de Araújo Limaa, Marcia Pradella-Hallinan, Juliana Castro, Sergio Tufik, Fernando Morgadinho Santos Coelho   +10 more
doaj   +1 more source

Hypocretinergic interactions with the serotonergic system regulate REM sleep and cataplexy

Nature Communications, 2020
Narcolepsy is characterized by a sudden loss of muscle tone (cataplexy) similar to REM sleep and is caused by hypocretin deficiency. Here, the authors show that deleting the serotonin transporter gene in hypocretin knockout mice suppresses cataplexy ...
Ali Seifinejad, Sha Li, Marie-Laure Possovre, Anne Vassalli, Mehdi Tafti   +4 more
doaj   +1 more source