Gen cacna1e - De
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Gene: CACNA1E
CACNA1A
Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E — Northwestern Scholars
CACNA1E Single Gene
CACNA1A
New Causative Gene Found in Severe Childhood Epilepsy
Evaluation of the statistical significance of observing multiple functional de novo variants in this gene, taking into account gene length and local sequence context to determine the expected number of variants, generated a p-value of 1.
Due to this lack of experimental data, we cannot assess whether the variants reported have a gain-of-function effect, as described in Helbig et al.
Voltage-gated calcium channels and autism spectrum disorders.
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