✦ LIBER ✦

Pure haploinsufficiency for Dravet syndrome NaV1.1 (SCN1A) sodium channel truncating mutations

✍ Scribed by Giulia Bechi; Paolo Scalmani; Emanuele Schiavon; Raffaella Rusconi; Silvana Franceschetti; Massimo Mantegazza

Book ID: 109113454
Publisher: Wiley (Blackwell Publishing)
Year: 2011
Tongue: English
Weight: 741 KB
Volume: 53
Category: Article
ISSN: 0013-9580
DOI: 10.1111/j.1528-1167.2011.03346.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Reduced expression of Nav1.6 sodium chan

Reduced expression of Nav1.6 sodium channels and compensation by Nav1.2 channels in mice heterozygous for a null mutation in Scn8a

✍ Ana V. Vega; Diane L. Henry; Gary Matthews 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 594 KB

A homozygous mutation of voltage-gated s

A homozygous mutation of voltage-gated sodium channel β I gene SCN1B in a patient with Dravet syndrome

✍ Ogiwara, Ikuo; Nakayama, Tojo; Yamagata, Tetsushi; Ohtani, Hideyuki; Mazaki, Emi 📂 Article 📅 2012 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 210 KB

No mutations in the voltage-gated NaV1.7

No mutations in the voltage-gated NaV1.7 sodium channel α1 subunit gene SCN9A in familial complex regional pain syndrome

✍ A. M. De Rooij; M. F. Gosso; E. Alsina-Sanchis; J. Marinus; J. J. Van Hilten; A. 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB

Dominant-Negative Suppression of Nav1.5

Dominant-Negative Suppression of Nav1.5 Channel by N-Terminal SCN5A Mutations in Brugada Syndrome

✍ Clatot, J.; Ziyadeh-Isleem, A.; Coulombe, A.; Maugenre, S.; Denjoy, I.; Hatem, S 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 227 KB

Exaggerated emotional behavior in mice h

Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6)

✍ B. C. McKinney; C. Y. Chow; M. H. Meisler; G. G. Murphy 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 424 KB

Floxed allele for conditional inactivati

Floxed allele for conditional inactivation of the voltage-gated sodium channel Scn8a (Nav1.6)

✍ Stephen I. Levin; Miriam H. Meisler 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 229 KB

## Abstract The sodium channel gene __Scn8a__ encodes the channel Na~V~1.6, which is widely distributed in the central and peripheral nervous system. Na~V~1.6 is the major channel at the nodes of Ranvier in myelinated axons. Mutant alleles of mouse __Scn8a__ result in neurological disorders includi