PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Child Neurology10.26815/acn.2022.002062022304204-207A Paramyotonia Congenita Family with an R1448H Mutation in SCN4AYoo Jung Lee, Yoon Hee Jo, Young Mi Kimhttp://annchildneurol.org/upload/pdf/acn-2022-00206.pdf, http://annchildneurol.org/journal/view.php?doi=10.26815/acn.2022.00206, http://annchildneurol.org/upload/pdf/acn-2022-00206.pdf
Muscle & Nerve10.1002/mus.261902018584E27-E28Prolonged attacks of weakness with hypokalemia in SCN4A -related paramyotonia congenitaTim van Osch, Bas C. Stunnenberg, Damien Sternberg, Bertjan J. Kerklaanhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmus.26190, http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.26190/fullpdf
The Journal of Physiology10.1113/jphysiol.2002.03392820035473691-698Mechanisms of cold sensitivity of paramyotonia congenita mutation R1448H and overlap syndrome mutation M1360VB. Mohammadi, N. Mitrovic, F. Lehmann-Horn, R. Dengler, J. Buflerhttp://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1113%2Fjphysiol.2002.033928, http://onlinelibrary.wiley.com/wol1/doi/10.1113/jphysiol.2002.033928/fullpdf
Neuromuscular Disorders10.1016/s0960-8966(97)00043-6199774231-233C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg) – correlations with clinical, neurophysiological and muscle biopsy dataKristian Borg, Gabrielle Åhlberg, Maria Anvrethttps://api.elsevier.com/content/article/PII:S0960896697000436?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896697000436?httpAccept=text/plain
Neuromuscular Disorders10.1016/j.nmd.2013.06.5932013239-10808P.12.11 Atypical paramyotonia congenita in a boy with a new mutation in the SCN4A geneS. Wallace, K. Ørstavik, T. Torbergsen, A. Abicht, M. Rasmussenhttps://api.elsevier.com/content/article/PII:S0960896613007670?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896613007670?httpAccept=text/plain
Journal of Korean Medical Science10.3346/jkms.2002.17.6.8562002176856A Korean Family with Arg1448Cys Mutation of SCN4A Channel Causing Paramyotonia Congenita: Electrophysiologic, Histopathologic, and Molecular Genetic StudiesDae Seong Kim, Eun Joo Kim, Dae Soo Jung, Kyu Hyun Park, In Joo Kim, Ki Young Kwak, Cheol Min Kim, Hyun Yoon Kohttps://synapse.koreamed.org/DOIx.php?id=10.3346/jkms.2002.17.6.856, https://synapse.koreamed.org/pdf/10.3346/jkms.2002.17.6.856, https://jkms.org/DOIx.php?id=10.3346/jkms.2002.17.6.856
Channels10.1080/19336950.2019.16009672019131110-119Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature reviewShan Huang, Wei Zhang, Xueli Chang, Junhong Guohttps://www.tandfonline.com/doi/pdf/10.1080/19336950.2019.1600967
Neuromuscular Disorders10.1016/j.nmd.2017.09.008201727121123-1125A SCN4A mutation causing paramyotonia congenitaCarmen Palma, Carmen Prior, Clara Gómez-González, Carlos Rodríguez-Antolin, Paloma Martínez-Montero, Lucía Pérez de Ayala, Samuel I. Pascual, Jesús Molano Mateoshttps://api.elsevier.com/content/article/PII:S0960896617303589?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896617303589?httpAccept=text/plain
Neuromuscular Disorders10.1016/j.nmd.2016.06.401201626S197A large dominant myotonia congenita family with a V1293I mutation in SCN4AK. Chung, D. Yoo, S. Lee, B. Choi, S. Leehttps://api.elsevier.com/content/article/PII:S0960896616306940?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0960896616306940?httpAccept=text/plain
Journal of Clinical Neuroscience10.1016/j.jocn.2010.12.03520111881138-1140Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese familyYu Feng, Xinping Ji, Xiaohong Sun, Hong Wang, Chaodong Zhanghttps://api.elsevier.com/content/article/PII:S0967586811000956?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0967586811000956?httpAccept=text/plain