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Items: 3

1.
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation
Jean-François Desaphy, Roberta Carbonara, Adele D'Amico, Anna Modoni, Julien Roussel, Paola Imbrici, Serena Pagliarani, Sabrina Lucchiari, Mauro Lo Monaco, Diana Conte Camerino
Neurology. 2016 May 31; 86(22): 2100–2108. doi: 10.1212/WNL.0000000000002721
PMCID:
PMC4891212
AbstractArticlePDF–989K
2.
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies
Véronique Bissay, Sophie CH Van Malderen, Kathelijn Keymolen, Willy Lissens, Uschi Peeters, Dorien Daneels, Anna C Jansen, Gudrun Pappaert, Pedro Brugada, Jacques De Keyser, Sonia Van Dooren
Eur J Hum Genet. 2016 Mar; 24(3): 400–407. Published online 2015 Jun 3. doi: 10.1038/ejhg.2015.125
PMCID:
PMC4755372
AbstractArticlePDF–993K
3.
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia
Tomoya Kubota, Xavier Roca, Takashi Kimura, Yosuke Kokunai, Ichizo Nishino, Saburo Sakoda, Adrian R. Krainer, Masanori P. Takahashi
Hum Mutat. Author manuscript; available in PMC 2014 Jul 24.
Published in final edited form as: Hum Mutat. 2011 Jul; 32(7): 773–782. Published online 2011 Apr 28. doi: 10.1002/humu.21501
PMCID:
PMC4109284
AbstractArticlePDF–476K

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