This gene encodes the alpha-1E subunit of R-type calcium channels, which belong to the 'high-voltage activated' group that may be involved in the modulation of firing patterns of neurons important for information processing. External Links Gene Card Open Targets Platform gnomAD browser SynGO portal PubMed Human Entrez Gene OMIM UniProt HumanBase
Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and.
Diyanna has officially been diagnosed as having a variant of the gene CACNA1E mutation. This is the 1st step in finding a cure for her. The cherry on top of this research is that several children have achieved seizure freedom with the help of a drug called Topiramate. At this point in time we haven’t got the information on Diyanna’s variant.
Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in …
The gene view histogram is a graphical view of mutations across CACNA1E. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left.
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