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Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

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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

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