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

Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.

Pediatrics - 1 Apr 2016

Portaro Simona, Rodolico Carmelo, Sinicropi Stefano, Musumeci Olimpia, Valenzise Mariella, Toscano Antonio

Abstract excerpt

Sodium channel myotonias are inherited muscle diseases linked to mutations in the voltage-gated sodium channel. These diseases may also affect newborns with variable symptoms. More recently, severe neonatal episodic laryngospasm (SNEL) has been described in a small number of patients. A timely diagnosis of SNEL is crucial because a specific treatment is now available that will likely reduced laryngospasm and...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Flecainide
Share to Hypertrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Mutation

Share to Myotonia Congenita

Share to NAV1.4 Voltage-Gated Sodium Channel

Source

Identifiers

PMID: 26944947
DOI: 10.1542/peds.2015-3289

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

Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.PMID 26944947Read ↗

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

Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.Semantic proximity Read ↗

Sodium channel myotonia may be associated with high-risk brief resolved unexplained eventsSemantic proximity Read ↗

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.Semantic proximity Read ↗

Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.Semantic proximity Read ↗

De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.Semantic proximity Read ↗

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.Semantic proximity Read ↗

Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.Semantic proximity Read ↗

Phenotypic variability in childhood of skeletal muscle sodium channelopathies.Semantic proximity Read ↗

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases.Semantic proximity Read ↗

A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.Semantic proximity Read ↗

Late diagnosis of RAPSN mutation-associated congenital myasthenic syndrome with obstructive sleep apnea in a 5-year-old girl.Semantic proximity Read ↗

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