Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Brain & development - 1 Mar 2023

Politano Davide, Gana Simone, Pezzotti Elena, Berardinelli Angela, Pasca Ludovica, Carmen Barbero Veronica, Pichiecchio Anna, Maria Valente Enza, Errichiello Edoardo

Abstract excerpt

BACKGROUND: NEUROD2, encoding the neurogenic differentiation factor 2, is essential for neurodevelopment. To date, heterozygous missense variants in this gene have been identified in eight patients (from six unrelated families) with epileptic encephalopathy and developmental delay. CASE REPORT: We describe a child with initial clinical suspicion of Rett/Rett-like syndrome, in whom exome sequencing detected a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autism Spectrum Disorder
Share to Basic Helix-Loop-Helix Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy, Generalized

Share to Intellectual Disability

Share to Neuropeptides

Share to Phenotype

Share to Rett Syndrome

Source

Identifiers

PMID: 36446697
DOI: 10.1016/j.braindev.2022.11.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot.PMID 36446697Read ↗

Expansion of NEUROD2 phenotypes to include developmental delay without seizures.Semantic proximity Read ↗

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.Semantic proximity Read ↗

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.Semantic proximity Read ↗

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathySemantic proximity Read ↗

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical featuresSemantic proximity Read ↗

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy.Semantic proximity Read ↗

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.Semantic proximity Read ↗

Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.Semantic proximity Read ↗

Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal.Semantic proximity Read ↗

Intellectual disability and hemizygous GPD2 mutation.Semantic proximity Read ↗

A de novo pathogenic variant in neuronal differentiation factor 2 in a Chinese patient with early infantile epileptic encephalopathy.Semantic proximity Read ↗

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.