Although the genetic neurologic channelopathies are uncommon, they serve as models that further understanding of disease mechanisms in paroxysmal disorders. Many other neurologic channelopathies likely will be identified in the future.
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http://dx.doi.org/10.1016/s0733-8619(03)00012-4 | DOI Listing |
Purpose Of Review: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating heritable channelopathy that can lead to sudden cardiac death in children and young adults. This review aims to explore genetics, the cardiac and extracardiac manifestations of mutations associated with CPVT, and the challenges involved with managing phenotypically variable variants.
Recent Findings: The understanding of the genetics and mechanisms of CPVT continues to grow with recent discoveries including alternative splicing of cardiac TRDN and calmodulin gene variants.
Med J Armed Forces India
December 2024
Director & Commandant, Armed Forces Medical College, Pune, India.
Neonatal diabetes mellitus is a rare disorder with prevalence of one in 400,000 live births that's defined by persistent hyperglycaemia within the first six months of life. Neonatal diabetes is heterogeneous and can be transient or permanent. Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is characterised by developmental delay, epilepsy, and neonatal diabetes.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Calcium ions play a key role in the physiological processes of the central nervous system. The intracellular calcium signal, in nerve cells, is part of the neurotransmission mechanism. They are responsible for stabilizing membrane potential and controlling the excitability of neurons.
View Article and Find Full Text PDFEcotoxicol Environ Saf
December 2024
Center for Sleep and Circadian Medicine, The Affiliated Brain Hospital, Guangzhou Medical University, Guangzhou 510370, China; Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou Medical University, Guangzhou 510260, China. Electronic address:
Physical activity (PA) may be considered an alternative method to ameliorate the elevated mortality risks associated with cadmium exposure. In this prospective cohort study, a total of 20,253 participants (weighted mean age, 47.79 years), including 10,247 men (weighted prevalence: 50.
View Article and Find Full Text PDFCell Commun Signal
November 2024
Department of Physiology, College of Medicine, National Taiwan University, Taipei, 100, Taiwan.
Loss-of-function mutations in the human gene encoding the neuron-specific Ca channel Ca2.1 are linked to the neurological disease episodic ataxia type 2 (EA2), as well as neurodevelopmental disorders such as developmental delay and developmental epileptic encephalopathy. Disease-associated Ca2.
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