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Article

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

15 Oct 2018

Abstract excerpt

Background Early infantile epileptic encephalopathies are severe disorders consisting of early-onset refractory seizures accompanied often by significant developmental delay. The increasing availability of next-generation sequencing has facilitated the recognition of single gene mutations as an underlying aetiology of some forms of early infantile epileptic encephalopathies. Objectives This study was designed to...

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PMID: 30323019
DOI: 10.1136/jmedgenet-2018-105322

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