Results 121 to 130 of about 9,985 (188)

From idiopathic pulmonary hemosiderosis to ENaC channelopathy: a novel SCNN1G mutation. [PDF]

Am J Respir Crit Care Med
Peng Q, Jiang Z, Chen Y, Li Y, Zhang F, Yang L, Lai W, Huang X, Wang L, Zeng X, Zhong B, Lu X.   +11 more
europepmc   +1 more source

Hidden Cardiac Channelopathies in Children Presenting with Syncope and Seizure-like Events. [PDF]

Children (Basel)
Aytekin Güvenir F, Özgür S.
europepmc   +1 more source

Hidden in Plain Sight: Electromechanical Window Negativity in Congenital Long QT Syndrome. [PDF]

Clin Case Rep
Paterson T, Sanders R, Pooranachandran V.   +2 more
europepmc   +1 more source

Aspirin responsive erythromelalgia in JAK2-thrombocythemia and incurable inherited erythrothermalgia in neuropathic Nav1.7 sodium channelopathy : from Mitchell 1878 to Michiels 2017

, 2017
: Introduction: The article reports on the nosologic classification and common etiologic pathways of aspirin responsive erythromelalgia in clonal JAK2 thrombocythema and incurable inherited autosomal dominant erythrothermalgia in Nav1.7 channelopathy ...
Michiels, Jan J.
core  

Case Report: Brugada syndrome uncovered by delivery in a 32-year-old patient. [PDF]

Front Cardiovasc Med
Liu P, Gao R, Yang Y, Zhai Z, Zhou Y.
europepmc   +1 more source

Adult-Onset Hypokalemic Periodic Paralysis With the p.Arg672Cys Variant in the SCN4A Gene: A Case Report. [PDF]

Cureus
Okabe T, Izumi M, Kouno I, Yukisawa S, Matsuda A.   +4 more
europepmc   +1 more source

Estimation of Incidence and Prevalence of Pediatric Channelopathies in a Mediterranean Population Based on a Single-Center, Retrospective Analysis. [PDF]

Children (Basel)
Bagkaki A, Papagiannis J, Anastasakis A, Parthenakis F, Chlouverakis G, Galanakis E, Germanakis I.   +6 more
europepmc   +1 more source

Concomitant Short QT Syndrome and Sick Sinus Syndrome: A Case Report. [PDF]

J Innov Card Rhythm Manag
Masoudkabir F, Khederlou H, Pirsaraei VA.   +2 more
europepmc   +1 more source

Commentary: A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

Frontiers in Cellular Neuroscience, 2018
Sonia Hasan, Therese Hunter, Gary Hunter, Mauro Pessia, Mauro Pessia, Maria Cristina D'Adamo   +5 more
doaj   +1 more source

T-Cell Acute Lymphoblastic Leukemia in a Young Patient With Andersen-Tawil Syndrome Successfully and Safely Treated With Intensive Chemotherapy Including Potential Precipitating Drugs: A Case Report After 3.5 Years of Follow-up. [PDF]

EJHaem
Rahmé R, Bamba PM, Do TTD, Behin A, Gandjbakhch E, Gardin C, Braun T.   +6 more
europepmc   +1 more source