Gen cacna1e - De


European Journal of Biochemistry.

Corbett is supported by The Channel 7 Children's Research Foundation and the Cerebral Palsy Alliance Research Foundation.

Functional analysis suggests a gain-of-function effect of these variants, and many individuals responded well to topiramate, which targets the channel encoded by CACNA1E.

Lack of Ca v 2.

Jurgen AU - Kruer, Michael C.

Description: Copy number segments are excluded if the total copy number and minor allele values are unknown.

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In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity.
Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed Ca V2.

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    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
    By: daisyfrank|||||||||
    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.
    By: aitanar|||||||||
    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 havenโ€™t got the information on Diyannaโ€™s variant.
    By: Brek_Shea|||||||||
    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 โ€ฆ
    By: epote|||||||||
    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.
    By: faireduvelo||||||||| - 2022
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