Article

Novel SCN9A variant associated with congenital insensitivity to pain.

2023-03-01

Abstract excerpt

<h4>Background: </h4> Congenital insensitivity to pain (CIP) is a rare autosomal recessive syndrome characterized by lack of pain perception with a wide spectrum of clinical signs such as anosmia and hyposmia. SCN9A gene variants were found to be associated with CIP. We here report on a family with three CIP affected patients referred for genetic investigations. Methods and Results Whole exome sequencing analysis...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 545c2682-fd63-518b-92a6-4bd95cd2f7bc
DOI: 10.21203/rs.3.rs-2620130/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel SCN9A variant associated with congenital insensitivity to pain.DOI 10.21203/rs.3.rs-2620130/v1Read

Novel SCN9A variant associated with congenital insensitivity to pain.Semantic proximity Read

[Congenital insensitivity to pain caused by a novel SCN9A-genotype].Semantic proximity Read

A novel mutation in SCN9A in a child with congenital insensitivity to pain.Semantic proximity Read

Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype.Semantic proximity Read

A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.Semantic proximity Read

Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7.Semantic proximity Read

[Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient].Semantic proximity Read

A Novel Homozygous Pathogenic Variant in SCN9A Gene Causing Hereditary Sensory and Autonomic Neuropathy Type ID: A Case ReportSemantic proximity Read

Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients.Semantic proximity Read

Two novel SCN9A mutations causing insensitivity to pain.Semantic proximity Read

Congenital insensitivity to pain: a novel mutation affecting a U12-type intron causes multiple aberrant splicing of SCN9A.Semantic proximity Read

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutationsSemantic proximity Read