(Q39180761)

9 September 2017

Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor (English)

1 reference

9 September 2017

Xue-Rong Leng

1

1 reference

9 September 2017

Xiao-Hong Qi

series ordinal

2

1 reference

9 September 2017

Yong-Tao Zhou

series ordinal

3

1 reference

9 September 2017

Yu-Ping Wang

series ordinal

4

1 reference

9 September 2017

language of work or name

1 reference

16 March 2017

1 reference

Journal of Human Genetics

9 September 2017

1 reference

9 September 2017

62

1 reference

9 September 2017

6

1 reference

9 September 2017

641-646

1 reference

https://scigraph.springernature.com/pub.10.1038/jhg.2017.21

9 September 2017

0 references

cites work

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Gain-of-function mutations in SCN11A cause familial episodic pain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Genetics of essential tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Genetics of essential tremor: meta-analysis and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Genetics of Parkinson's disease and essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Exome sequencing identifies FUS mutations as a cause of essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Molecular diversity of structure and function of the voltage-gated Na+ channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Nomenclature of voltage-gated sodium channels

21 January 2018

2 references

https://api.crossref.org/works/10.1038%2FJHG.2017.21

21 January 2018

https://pubmed.ncbi.nlm.nih.gov/28298626

12 December 2020

inferred from PubMed ID database lookup

Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

NaV1.9: a sodium channel linked to human pain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Inflammatory mediators increase Nav1.9 current and excitability in nociceptors through a coincident detection mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

GTP-induced tetrodotoxin-resistant Na+ current regulates excitability in mouse and rat small diameter sensory neurones

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Reliability between two observers using a protocol for diagnosing essential tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Genetics of essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

A study of hereditary essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

How familial is familial tremor? The genetic epidemiology of essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Familial essential tremor in 4 kindreds. Prospects for genetic mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Genetic heterogeneity in autosomal dominant essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Autosomal dominant essential tremor: a novel family with anticipation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Update on genetics of essential tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

Sodium channels in normal and pathological pain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

7 January 2021

Persistent TTX-resistant Na+ current affects resting potential and response to depolarization in simulated spinal sensory neurons.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

7 January 2021

Tremor and longevity in relatives of patients with Parkinson's disease, essential tremor, and control subjects

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

7 January 2021

Risk of tremor and impairment from tremor in relatives of patients with essential tremor: A community-based family study

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2017.21

7 January 2021

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28298626

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/JHG.2017.21

1 reference

9 September 2017

1 reference