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<i>De Novo</i> Truncating Mutation of <i>TRIM8</i> Causes Early‐Onset Epileptic Encephalopathy

27 Jun 2016

Abstract excerpt

BACKGROUND: Early-onset epileptic encephalopathy (EOEE) is a heterogeneous group of neurodevelopmental disorders characterised by infantile-onset intractable epilepsy and unfavourable developmental outcomes. Hundreds of mutations have been reported to cause EOEE; however, little is known about the clinical features of individuals with rare variants. CASE REPORT AND METHODS: We present a 10-year-old boy with...

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PMID: 27346735
DOI: 10.1111/ahg.12157

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