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

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.

Journal of the neurological sciences - 15 Aug 2021

Cintra Vivian Pedigone, Dohrn Maike F, Tomaselli Pedro José, Figueiredo Fernanda Barbosa, Marques Sandra Elisabete, Camargos Sarah Teixeira, Barbosa Luiz Sergio Mageste, P Rebelo Adriana, Abreu Lisa, Danzi Matt, Marques Wilson, Züchner Stephan

Abstract excerpt

Hereditary sensory neuropathies (HSN) are a group of rare neurological disorders with heterogeneous clinical and genetic characteristics. Although at least 17 different genes have already been associated with HSN, the epidemiology of the disorder in Brazil is still unknown. Performing whole genome sequencing (WGS) in 23 unrelated Brazilian families diagnosed with HSN, we detected pathogenic variants in ATL3,...

Read the complete abstract on PubMed

Topics

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

Share to Brazil
Share to GTP Phosphohydrolases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hereditary Sensory and Autonomic Neuropathies

Share to Heterozygote

Share to Mutation

Share to NAV1.7 Voltage-Gated Sodium Channel

Share to Serine C-Palmitoyltransferase

Source

Open in PubMed Open full text

Identifiers

PMID: 34090020
DOI: 10.1016/j.jns.2021.117498
PMCID: PMC8325641

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort.PMID 34090020Read ↗

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.Semantic proximity Read ↗

Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.Semantic proximity Read ↗

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

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Semantic proximity Read ↗

Investigating genotype–phenotype relationship of extreme neuropathic pain disorders in a UK national cohortSemantic proximity Read ↗

Hereditary sensory neuropathies.Semantic proximity Read ↗

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.Semantic proximity Read ↗

Hereditary sensory neuropathy type I.Semantic proximity Read ↗

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

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.Semantic proximity Read ↗

Yield of peripheral sodium channels gene screening in pure small fibre neuropathySemantic proximity Read ↗

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

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