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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… Click to show full abstract
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.
Keywords:
epileptic encephalopathies;
loss function;
function loss;
function;
gain function;
developmental epileptic
Journal Title: Epilepsia
Year Published: 2019
Link to full text (if available)
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Journal Title: Epilepsia
Year Published: 2019
Link to full text (if available)
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recommendations!