Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

doi:10.1016/j.ajhg.2021.02.015

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

Community

Back to search

Article

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.

American journal of human genetics - 1 Apr 2021

Fatima Ambrin, Hoeber Jan, Schuster Jens, Koshimizu Eriko, Maya-Gonzalez Carolina, Keren Boris, Mignot Cyril, Akram Talia, Ali Zafar, Miyatake Satoko, Tanigawa Junpei, Koike Takayoshi, Kato Mitsuhiro, Murakami Yoshiko, Abdullah Uzma, Ali Muhammad Akhtar, Fadoul Rein, Laan Loora, Castillejo-López Casimiro, Liik Maarika, Jin Zhe, Birnir Bryndis, Matsumoto Naomichi, Baig Shahid M, Klar Joakim, Dahl Niklas

Abstract excerpt

Neurochondrin (NCDN) is a cytoplasmatic neural protein of importance for neural growth, glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in mice neural tissue causes depressive-like behaviors, impaired spatial learning, and epileptic seizures. We report on NCDN missense variants in six affected individuals with variable degrees of developmental delay, intellectual disability...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Intellectual Disability

Share to Language Development Disorders

Share to Nerve Tissue Proteins

Share to Neurites

Share to Neurodevelopmental Disorders

Share to Pakistan

Source

Open in PubMed Open full text

Identifiers

PMID: 33711248
DOI: 10.1016/j.ajhg.2021.02.015
PMCID: PMC8059333

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.PMID 33711248Read ↗

<i>MDGA2</i> homozygous loss-of-function variants cause developmental and epileptic encephalopathySemantic proximity Read ↗

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.Semantic proximity Read ↗

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.Semantic proximity Read ↗

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.Semantic proximity Read ↗

Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.Semantic proximity Read ↗

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.Semantic proximity Read ↗

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variantSemantic proximity Read ↗

Assessing the impact of mono- and bi-allelic deletions in <i>NRXN1</i> on synaptic functionSemantic proximity Read ↗

Variants in CSMD2 and CSMD3 , genes involved in synaptogenesis, are associated with epilepsiesSemantic proximity Read ↗

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital DefectsSemantic proximity Read ↗

NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new Syndrome?Semantic proximity Read ↗

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).Semantic proximity Read ↗

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