Repository logo

Infoscience

  • English
  • French
Log In
Logo EPFL, École polytechnique fédérale de Lausanne

Infoscience

  • English
  • French
Log In
  1. Home
  2. Academic and Research Output
  3. Journal articles
  4. A novel dominant mutation of the Na(v)1.4 alpha-subunit domain I leading to sodium channel myotonia
 
research article

A novel dominant mutation of the Na(v)1.4 alpha-subunit domain I leading to sodium channel myotonia

Petitprez, S.
•
Tiab, L.
•
Chen, L.
Show more
2008
Neurology

Background: Mutations in SCN4A may lead to myotonia.

  • Details
  • Metrics
Type
research article
DOI
10.1212/01.wnl.0000335168.86248.55
Web of Science ID

WOS:000260953600004

Author(s)
Petitprez, S.
Tiab, L.
Chen, L.
Kappeler, L.
Roesler, K. M.
Schorderet, D.
Abriel, H.
Burgunder, J. -M.
Date Issued

2008

Published in
Neurology
Volume

71

Start page

1669

End page

1675

Subjects

Hyperkalemic Periodic Paralysis

•

Muscle Chloride Channel

•

Slow Inactivation

•

Paramyotonia-Congenita

•

Skeletal-Muscle

•

Allelic Heterogeneity

•

Channelopathies

•

Sensitivity

•

Disease

•

Cic-1

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
SV  
Available on Infoscience
November 30, 2010
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/60866
Logo EPFL, École polytechnique fédérale de Lausanne
  • Contact
  • infoscience@epfl.ch

  • Follow us on Facebook
  • Follow us on Instagram
  • Follow us on LinkedIn
  • Follow us on X
  • Follow us on Youtube
AccessibilityLegal noticePrivacy policyCookie settingsEnd User AgreementGet helpFeedback

Infoscience is a service managed and provided by the Library and IT Services of EPFL. © EPFL, tous droits réservés