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

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

American journal of medical genetics. Part A - 1 Dec 2015

Lebrun Nicolas, Lebon Sébastien, Jeannet Pierre-Yves, Jacquemont Sébastien, Billuart Pierre, Bienvenu Thierry

Abstract excerpt

We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy, who was found to carry a de novo novel splice site mutation in SMC1A. This girl shared some morphologic and anthropometric traits described in patients with clinical diagnosis o...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases
Share to Cell Cycle Proteins
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to De Lange Syndrome

Share to Epilepsy

Share to Real-Time Polymerase Chain Reaction

Share to RNA Splice Sites

Share to Structural Maintenance of Chromosome Protein 1

Source

Identifiers

PMID: 26358754
DOI: 10.1002/ajmg.a.37364

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26358754-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.PMID 26358754Read ↗

SMC1A epilepsy syndrome: clinical data from a large international cohort.Semantic proximity Read ↗

De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.Semantic proximity Read ↗

A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy.Semantic proximity Read ↗

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.Semantic proximity Read ↗

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.Semantic proximity Read ↗

Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A case report.Semantic proximity Read ↗

Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.Semantic proximity Read ↗

Mutation type-specific transcriptomic signatures and readthrough therapy rescue in SMC1A-related developmental and epileptic encephalopathy.Semantic proximity Read ↗

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.Semantic proximity Read ↗

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.Semantic proximity Read ↗

Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype.Semantic proximity Read ↗

Compound heterozygosity of EXOSC2 ‘missense’ variants causes a bi-allelic decrease in protein expression through novel unexpected pathomechanismsSemantic proximity Read ↗

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