| 1 |
Sodium Channels in Human Pain Disorders: Genetics and Pharmacogenomics.
24
|
Dib-Hajj SD...Waxman SG
|
30702961 |
2019 |
| 2 |
Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.
24
|
Eijkenboom I...Gerrits MM
|
30554136 |
2019 |
| 3 |
Lacosamide in patients with Nav1.7 mutations-related small fibre neuropathy: a randomized controlled trial.
24
|
de Greef BTA...Merkies ISJ
|
30649227 |
2019 |
| 4 |
Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Nav 1.7 mutation I234T.
24
|
Yang Y...Waxman SG
|
28658526 |
2018 |
| 5 |
Associated conditions in small fiber neuropathy - a large cohort study and review of the literature.
24
|
de Greef BTA...Merkies ISJ
|
29112785 |
2018 |
| 6 |
Atypical changes in DRG neuron excitability and complex pain phenotype associated with a Nav1.7 mutation that massively hyperpolarizes activation.
24
|
Huang J...Waxman SG
|
29379075 |
2018 |
| 7 |
Current pain management strategies for patients with erythromelalgia: a critical review.
24
|
Tham SW...Giles M
|
30214279 |
2018 |
| 8 |
The diagnostic challenge of small fibre neuropathy: clinical presentations, evaluations, and causes.
24
|
Terkelsen AJ...Jensen TS
|
29029847 |
2017 |
| 9 |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
24
|
Stenson PD...Cooper DN
|
28349240 |
2017 |
| 10 |
Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling.
24
|
Geha P...Waxman SG
|
27088781 |
2016 |
| 11 |
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.
24
|
McDonnell A...Waxman SG
|
26920677 |
2016 |
| 12 |
Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.
24
|
Emery EC...Reimann F
|
25995458 |
2015 |
| 13 |
Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.
24
|
Cregg R...Werdehausen R
|
24866741 |
2014 |
| 14 |
Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.
24
|
Yuan J...Takashima H
|
23596073 |
2013 |
| 15 |
The Na(V)1.7 sodium channel: from molecule to man.
24
|
Dib-Hajj SD...Waxman SG
|
23232607 |
2013 |
| 16 |
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.
24
|
Faber CG...Merkies IS
|
21698661 |
2012 |
| 17 |
Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.
24
|
Choi JS...Waxman SG
|
20478850 |
2010 |
| 18 |
Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel.
24
|
Natkunarajah J...Mortimer P
|
19549232 |
2009 |
| 19 |
A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
24
|
Fischer TZ...Waxman SG
|
19557861 |
2009 |
| 20 |
Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.
24
|
Choi JS...Waxman SG
|
19162012 |
2009 |
| 21 |
Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.
24
|
Drenth JP...Waxman SG
|
18060017 |
2007 |
| 22 |
Paroxysmal extreme pain disorder (previously familial rectal pain syndrome).
24
|
Fertleman CR...Stephenson JB
|
17679678 |
2007 |
| 23 |
An SCN9A channelopathy causes congenital inability to experience pain.
24
|
Cox JJ...Woods CG
|
17167479 |
2006 |
| 24 |
Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.
24
|
Han C...Waxman SG
|
16392115 |
2006 |
| 25 |
Development and preliminary validation of a pain measure specific to neuropathic pain: the Neuropathic Pain Scale.
24
|
Galer BS...Jensen MP
|
9040716 |
1997 |
| 26 |
SCN9A Neuropathic Pain Syndromes
61
|
Hisama FM...Waxman SG
|
20301342 |
2006 |
