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Article

Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

American journal of medical genetics. Part A - 1 Apr 2021

Mis Emily K, Sega Annalisa G, Signer Rebecca H, Cartwright Tracy, Ji Weizhen, Martinez-Agosto Julian A, Nelson Stanley F, Palmer Christina G S, Lee Hane, Mitzelfelt Thomas, Konstantino Monica, Jeffries Lauren, Khokha Mustafa K, Marco Elysa, Martin Martin G, Lakhani Saquib A

Abstract excerpt

De novo heterozygous variants in the brain-specific transcription factor Neuronal Differentiation Factor 2 (NEUROD2) have been recently associated with early-onset epileptic encephalopathy and developmental delay. Here, we report an adolescent with developmental delay without seizures who was found to have a novel de novo heterozygous NEUROD2 missense variant, p.(Leu163Pro). Functional testing using an in vivo...

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Identifiers

PMID: 33438828
DOI: 10.1002/ajmg.a.62064
PMCID: PMC8212414

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