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

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

Journal of neurology - 1 Jan 2018

McMacken Grace, Whittaker Roger G, Evangelista Teresinha, Abicht Angela, Dusl Marina, Lochmüller Hanns

Abstract excerpt

BACKGROUND: Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. The underlying mechanisms for sudden and recurrent episodes of respiratory arrest in these patients are unclear. Whilst CMS-EA is most commonly caused by mutations in CHAT, the list of associated genotypes is expanding. METHODS: We reviewed clinical...

Read the complete abstract on PubMed

Topics

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

Share to Acetylcholinesterase
Share to Apnea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Choline O-Acetyltransferase

Share to Cholinesterase Inhibitors

Share to Creatine Kinase

Share to Myasthenia Gravis

Share to Receptors, Cholinergic

Share to Respiratory Insufficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 29189923
DOI: 10.1007/s00415-017-8689-3
PMCID: PMC5760613

Genes

CHAT
RAPSN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.PMID 29189923Read ↗

Congenital myasthenic syndrome with episodic apnea.Semantic proximity Read ↗

Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.Semantic proximity Read ↗

[Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].Semantic proximity Read ↗

Congenital myasthenic syndromesSemantic proximity Read ↗

Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.Semantic proximity Read ↗

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations.Semantic proximity Read ↗

New phenotype of severe neonatal episodic laryngospasm due to a missense mutation in SCN4A: A case report and literature review.Semantic proximity Read ↗

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.Semantic proximity Read ↗

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.Semantic proximity Read ↗

Congenital Myasthenic Syndrome: Long-Term Outcomes up to 60 Years, Molecular Characterization, and Eight Novel Variants.Semantic proximity Read ↗

Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis.Semantic proximity Read ↗

[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].Semantic proximity Read ↗

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