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

Expanding the Phenotype of NRROS -Related SENEBAC Syndrome.

American journal of medical genetics. Part A - 1 Mar 2025

Srinivasan Varunvenkat M, Gowda Vykuntaraju K, Markose Annsmol P, Kinhal Uddhava V, Pandey Himani

Abstract excerpt

Biallelic variants in NRROS are associated with the rare entity of seizures, early-onset, with neurodegeneration and brain calcification (SENEBAC). Here, we report a novel loss of function variant c.720G>A, p.(Trp240*) in a patient with the clinical presentation of developmental regression, refractory seizures, and intracranial calcification. The notable clinical features included normal early development...

Read the complete abstract on PubMed

Topics

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

Share to Microcephaly
Share to Seizures
Share to Brain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcinosis

Share to Child, Preschool

Share to Extracellular Matrix Proteins

Share to Infant

Share to Loss of Function Mutation

Source

Identifiers

PMID: 39422130
DOI: 10.1002/ajmg.a.63899

Genes

NRROS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the Phenotype of NRROS -Related SENEBAC Syndrome.PMID 39422130Read ↗

Delineating the epilepsy phenotype of NRROS-related microgliopathy: A case report and literature review.Semantic proximity Read ↗

First reported case of an inherited PACS2 pathogenic variant with variable expressionSemantic proximity Read ↗

Central nervous system involvement in individuals with RASopathies.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New Cases.Semantic proximity Read ↗

Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review.Semantic proximity Read ↗

Raynaud–Claes Syndrome as a Rett-Like Condition: Review of the Literature and Presentation of Two Additional CasesSemantic proximity Read ↗

COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.Semantic proximity Read ↗

The Natural History of Infantile Neuroaxonal DystrophySemantic proximity Read ↗

The natural history of infantile neuroaxonal dystrophy.Semantic proximity Read ↗

Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.Semantic proximity Read ↗

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.Semantic proximity Read ↗

Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsionsSemantic proximity Read ↗

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