Results 31 to 40 of about 16,999 (238)

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Preface

Cardiogenetics, 2011
On behalf of the Working Group on Cellular and Molecular Biology of the Italian Society of Cardiology, we are glad to present this special issue devoted to Channelopathies, the genetically transmitted ion channel diseases.The relevance of Channelopathies
Lia Crotti
doaj   +1 more source

From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease [PDF]

, 2014
McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity.
Andrea Beggs, Andreu AL, Andrew Wakelin, Borg G, Braakhekke JP, Charlotte Ellerton, Gurgel-Giannetti J, Haller RG, Janice L Holton, Jatin Pattni, Lucia A, Lucia A, Miteff F, Nadaj-Pakleza AA, Pearson C, Pernow BB, Quinlivan R, Renata Siciliani Scalco, Richard Godfrey, Ros Quinlivan, Sherryl Chatfield, Stefen Brady, Vieitez I, Vissing J   +23 more
core   +3 more sources

News and views on ion channels in cancer: is cancer a channelopathy?

Frontiers in Pharmacology, 2023
Ion channels are key signaling proteins found throughout the body; they are critical in many, wide-ranging physiological processes, from gene expression, sensory perception and processing to the cardiac action potential.
Damian C. Bell, Luigi Leanza, Saverio Gentile, Daniel R. Sauter   +3 more
doaj   +1 more source

Aetiology of sudden cardiac death in sport: a histopathologist's perspective. [PDF]

, 2012
In the UK, when a young person dies suddenly, the coroner is responsible for establishing the cause of death. They will ask a consultant pathologist to carry out an autopsy in order to ascertain when, where and how that person died.
Sheppard, MN
core   +1 more source

Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies

Journal of Biomedical Science, 2017
Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition.
Simona Magi, Vincenzo Lariccia, Marta Maiolino, Salvatore Amoroso, Santo Gratteri   +4 more
doaj   +1 more source

Kv1.1 deficiency alters repetitive and social behaviors in mice and rescues autistic‐like behaviors due to Scn2a haploinsufficiency

Brain and Behavior, 2021
Background Autism spectrum disorder (ASD) and epilepsy are highly comorbid, suggesting potential overlap in genetic etiology, pathophysiology, and neurodevelopmental abnormalities; however, the nature of this relationship remains unclear.
Jagadeeswaran Indumathy, April Pruitt, Nicole M. Gautier, Kaitlin Crane, Edward Glasscock   +4 more
doaj   +1 more source

Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]

, 2015
Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
core   +1 more source

Overlapping Autoimmune Syndromes in Patients With Glial Fibrillary Acidic Protein Antibodies

Frontiers in Neurology, 2018
BackgroundGlial fibrillary acidic protein (GFAP) astrocytopathy, an autoimmune central nervous system disorder with a specific GFAP-IgG, often coexists with other antibodies.ObjectiveThe aim of this article was to study overlapping syndromes in ...
Xinguang Yang, Xinguang Yang, Huiming Xu, Huiming Xu, Meilin Ding, Qingmei Huang, Qingmei Huang, Baikeng Chen, Baikeng Chen, Huacai Yang, Huacai Yang, Tianni Liu, Tianni Liu, Youming Long, Youming Long, Cong Gao, Cong Gao   +16 more
doaj   +1 more source

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source