De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analysis
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DOI: 10.1002/mgg3.70127
Abstract: Developmental and epileptic encephalopathies (DEEs) comprise a diverse range of disorders that can arise from both genetic and non‐genetic causes. Genetic DEEs are linked to pathogenic variants in various genes with different molecular functions. The… read more here.
Keywords: hnrnpu pathogenic; developmental epileptic; variant; pathogenic variant ... See more keywords