Results 171 to 180 of about 11,955 (223)

Atypical Andersen-Tawil Syndrome in an Asymptomatic Child With Bidirectional Ventricular Tachycardia and Incipient Tachycardiomyopathy. [PDF]

JACC Case Rep
Assunção MELSM, Rocha JEM, Montenegro MV, Lucena-Silva N, Alves SMM, Albuquerque ALT.   +5 more
europepmc   +1 more source

Structured postmortem genetic counselling and testing in sudden unexpected death among young adults in the Netherlands: Results and implications regarding hereditary risk

Wemeijer T, Verbaan L, Duijst W, Hoedemaekers Y, Christiaans I.   +4 more
europepmc   +1 more source

[Channelopathies].

Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 1999
openaire   +1 more source

Channelopathies

Channelopathies
openaire   +1 more source

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CaV3.3 Channelopathies

2023
CaV3.3 is the third member of the low-voltage-activated calcium channel family and the last to be recognized as disease gene. Previously, CACNA1I, the gene encoding CaV3.3, had been described as schizophrenia risk gene. More recently, de novo missense mutations in CACNA1I were identified in patients with variable degrees of neurodevelopmental disease ...
Yousra, El Ghaleb, Bernhard E, Flucher
openaire   +2 more sources

Improving genetic diagnostics of skeletal muscle channelopathies [PDF]

Expert Review of Molecular Diagnostics, 2020
Introduction: Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk.
Emma Matthews, Vinojini Vivekanandam, Roope Mannikko   +2 more
exaly   +2 more sources