A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot-Reference-Cited by-同舟云学术

A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot

Published:2023-03 Issue:3 Volume:45 Page:179-184
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

POLITANO Davide^ORCID,GANA Simone,PEZZOTTI Elena,BERARDINELLI Angela,PASCA Ludovica,Carmen BARBERO Veronica,PICHIECCHIO Anna^ORCID,Maria VALENTE Enza,ERRICHIELLO Edoardo^ORCID

Funder

Università degli Studi di Pavia

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference20 articles.

1. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies;Hamdan;Am J Hum Genet,2017

2. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study;Papuc;Eur J Hum Genet,2019

3. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy;Takata;Nat Commun,2019

4. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy;Sega;J Med Genet,2019

5. Expansion of NEUROD2 phenotypes to include developmental delay without seizures;Mis;Am J Med Genet A,2021

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