Familial episodic limb pain in kindreds with novel Nav1.9 mutations (Q60301711)

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14 April 2020

title

Familial episodic limb pain in kindreds with novel Nav1.9 mutations (English)

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14 April 2020

8

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Takeshi Yoshida

16

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14 April 2020

Yang Cao

22

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14 April 2020

Hatasu Kobayashi

24

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Akio Koizumi

28

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author name string

Risako Kabata

1

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Hiroko Okuda

2

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14 April 2020

Atsuko Noguchi

3

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Daiki Kondo

4

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Michimasa Fujiwara

5

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14 April 2020

Kenichiro Hata

6

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Yoshifumi Kato

7

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Manabu Tanaka

9

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Yuji Sekine

10

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Nozomi Hishikawa

11

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Tomoyuki Mizukami

12

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Junichi Ito

13

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14 April 2020

Manami Akasaka

14

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14 April 2020

Ken Sakurai

15

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Hironori Minoura

17

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Takashi Hayashi

18

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14 April 2020

Kohei Inoshita

19

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14 April 2020

Misayo Matsuyama

20

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14 April 2020

Noriko Kinjo

21

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14 April 2020

Sumiko Inoue

23

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14 April 2020

Kouji H Harada

25

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14 April 2020

Shohab Youssefian

26

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14 April 2020

Tsutomu Takahashi

27

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language of work or name

English

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publication date

17 December 2018

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volume

13

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14 April 2020

page(s)

e0208516

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issue

12

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Creative Commons Attribution 4.0 International

14 April 2020

copyright license

start time

17 December 2018

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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Glycosylation alters steady-state inactivation of sodium channel Nav1.9/NaN in dorsal root ganglion neurons and is developmentally regulated.

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

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Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

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A-type voltage-gated K+ currents influence firing properties of isolectin B4-positive but not isolectin B4-negative primary sensory neurons

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Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons

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SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes

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An SCN9A channelopathy causes congenital inability to experience pain

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Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant

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The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking

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12 December 2020

Voltage-clamp and current-clamp recordings from mammalian DRG neurons

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Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations

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Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene

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Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

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DNA targeting specificity of RNA-guided Cas9 nucleases

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

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12 December 2020

Electrophysiological and trafficking defects of the SCN5A T353I mutation in Brugada syndrome are rescued by alpha-allocryptopine.

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12 December 2020

A new look at sodium channel β subunits

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12 December 2020

The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.

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12 December 2020

The Nav1.9 channel is a key determinant of cold pain sensation and cold allodynia.

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12 December 2020

NaV1.9: a sodium channel linked to human pain

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12 December 2020

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

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12 December 2020

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

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12 December 2020

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

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Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

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Biophysical and Pharmacological Characterization of Nav1.9 Voltage Dependent Sodium Channels Stably Expressed in HEK-293 Cells

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Pathological nociceptors in two patients with erythromelalgia-like symptoms and rare genetic Nav 1.9 variants

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Structure of a eukaryotic voltage-gated sodium channel at near-atomic resolution.

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SCN3A deficiency associated with increased seizure susceptibility.

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Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot.

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12 December 2020

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

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12 December 2020

Structure of the Nav1.4-β1 Complex from Electric Eel.

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12 December 2020

SCN11A variants may influence postoperative pain sensitivity after gynecological surgery in Chinese Han female patients

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12 December 2020

NaV1.9 Potentiates Oxidized Phospholipid-Induced TRP Responses Only under Inflammatory Conditions.

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12 December 2020

Loss-of-function of Nav1.8/D1639N linked to human pain can be rescued by lidocaine

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12 December 2020

10.1371/JOURNAL.PONE.0208516

Identifiers

DOI

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14 April 2020

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