Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

about

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

Item

http://www.wikidata.org/entity/Q55512224

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Hypokalaemic periodic paralysi ...... s mutation p.R1451L in NaV1.4.

@en

Hypokalaemic periodic paralysi ...... s mutation p.R1451L in NaV1.4.

@nl

type

Item

label

Hypokalaemic periodic paralysi ...... s mutation p.R1451L in NaV1.4.

@en

Hypokalaemic periodic paralysi ...... s mutation p.R1451L in NaV1.4.

@nl

prefLabel

Hypokalaemic periodic paralysi ...... s mutation p.R1451L in NaV1.4.

@en

Hypokalaemic periodic paralysi ...... s mutation p.R1451L in NaV1.4.

@nl

P1476

Hypokalaemic periodic paralysi ...... s mutation p.R1451L in NaV1.4.

@en

P2093

Chongbo Zhao

http://www.w3.org/2001/XMLSchema#string

Emma Matthews

http://www.w3.org/2001/XMLSchema#string

Jiahong Lu

http://www.w3.org/2001/XMLSchema#string

Jian Sun

http://www.w3.org/2001/XMLSchema#string

Jie Song

http://www.w3.org/2001/XMLSchema#string

Kai Qiao

http://www.w3.org/2001/XMLSchema#string

Michael G Hanna

http://www.w3.org/2001/XMLSchema#string

Richa Sud

http://www.w3.org/2001/XMLSchema#string

Sushan Luo

http://www.w3.org/2001/XMLSchema#string

P2860

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans

Channelopathies of skeletal muscle excitability

A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity

Correlating phenotype and genotype in the periodic paralyses

Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations

Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia

P304

9714

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1038/S41598-018-27822-2

http://www.w3.org/2001/XMLSchema#string

P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Roope Mannikko

Marisol Sampedro-Castañeda

P577

2018-06-26T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29946067

http://www.w3.org/2001/XMLSchema#string

P932

6018793

http://www.w3.org/2001/XMLSchema#string