[From gene to disease; primary erythermalgia--a neuropathic

Ned Tijdschr Geneeskd · Jan 2006

Review

[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].

Primary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (NaV1.7). NaV1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia.

read more… or not…
- J P H Drenth, R H M te Morsche, and J J Michiels.
- Universitair Medisch Centrum St Radboud, afd. Maag-, Darm- en Leverziekten, 547, Postbus 9101, 6500 HB Nijmegen. joostphdrenth@cs.com
- Ned Tijdschr Geneeskd. 2006 Jan 28;150(4):194-6.
AbstractPrimary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (NaV1.7). NaV1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia.

Pubmed Copy Citation Plaintext

Add institutional full text...
Notes
Knowledge, pearl, summary or comment to share?

300 characters remaining

help

You can also include formatting, links, images and footnotes in your notes

Simple formatting can be added to notes, such as *italics*, _underline_ or **bold**.

Superscript can be denoted by <sup>text</sup> and subscript <sub>text</sub>.

Numbered or bulleted lists can be created using either numbered lines 1. 2. 3., hyphens - or asterisks *.

Links can be included with: [my link to pubmed](http://pubmed.com)

Images can be included with: ![alt text](https://bestmedicaljournal.com/study_graph.jpg "Image Title Text")

For footnotes use [^1](This is a footnote.) inline.

Or use an inline reference [^1] to refer to a longer footnote elseweher in the document [^1]: This is a long footnote..
hide…

[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].

Notes

300 characters remaining

help

You can also include formatting, links, images and footnotes in your notes

What will the 'Medical Journal of You' look like?

Start your free 21 day trial now.