Scapuloperoneal spinal muscular atrophy and Charcot-Marie-Tooth disease type 2C are inherited neurodegenerative diseases characterized by sensory defects and muscle weakness. Three new studies ...

Studying the Genetic Basis of Neurodevelopmental Channelopathies from thescientistllc on Vimeo. Neurodevelopmental channelopathies impact the responsiveness of cells in the central nervous system to ...

In addition to genetic and autoimmune channelopathies, the two best-known types of this family of disorders, a new class has recently been recognized: transcriptional channelopathies, which are due to ...

In a recent study, genetic mutations of the KCNQ2 potassium ion channel were identified in 8/80 (10%) of children with early infantile seizures and associated psychomotor retardation. [1] Seizures ...

February 26, 2009 (Pavia, Italy) — A new study shows that the cost of genetic testing for inherited cardiac channelopathies is reasonable for those who have a conclusive diagnosis and that these ...

Members of CVRI Theme ‘Arrhythmias & Channelopathies’ are involved in various translational and clinical research projects in cardiac electrophysiology. Specific areas of interest include the genetics ...

Muscle contraction requires a tight communication between Ca2+-permeable ion channels located in the plasma membrane (e.g., L-type calcium channels (CaVs)) and in the sarcoplasmic reticulum (e.g., ...

Researchers from the Yong Loo Lin School of Medicine, National University of Singapore (NUS Medicine) are working on a therapy that holds potential in treating patients with epilepsy, a neurological ...