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Objective
Developmental epileptic encephalopathies (DEEs) are genetically heterogeneous severe childhood‐onset epilepsies with developmental delay or cognitive deficits. In this study, we explored the pathogenic mechanisms of DEE‐associated de novo mutations in the CACNA1A gene.
Methods
We studied the functional impact of four de novo DEE‐associated CACNA1A mutations, including the previously described...
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