Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V

Periodic paralysis (PP) is an uncommon inherited disorder causing recurrent episodes of muscle weakness, with an incidence of 0.001%. Normokalemic periodic paralysis (NormoKPP) as the rarest subtype of PP contains both familial and sporadic. Familial NormoKPP caused by the p.M1592V mutation of the s...

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Veröffentlicht in:Frontiers in neurology Jg. 9; S. 430
Hauptverfasser: Fu, Chao, Wang, Zhenyu, Wang, Libo, Li, Jia, Sang, Qiuling, Chen, Jiajun, Qi, Ling, Jin, Hui, Liu, Xiaoyang
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Switzerland Frontiers Media S.A 07.06.2018
Schlagworte:
mutations
Neurology
normokalemic periodic paralysis
pedigree
respiratory muscle paralysis
SCN4A
pedigree
respiratory muscle paralysis
normokalemic periodic paralysis
SCN4A
mutations
ISSN:1664-2295, 1664-2295
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Zusammenfassung:Periodic paralysis (PP) is an uncommon inherited disorder causing recurrent episodes of muscle weakness, with an incidence of 0.001%. Normokalemic periodic paralysis (NormoKPP) as the rarest subtype of PP contains both familial and sporadic. Familial NormoKPP caused by the p.M1592V mutation of the skeletal muscle sodium channel alpha subunit ( ) gene is rarely reported. Only three pedigrees of NormoKPP related to mutations in the p.M1592V have been previously reported. We herein presented a family case of NormoKPP associated with the p.M1592V mutation, in which respiratory muscle paralysis occurred in the proband while not in his children. Moreover, we conducted a thorough literature review. To our knowledge, this is the first report of respiratory muscle paralysis as a symptom of NormoKPP associated with mutation in the p.M1592V.
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These authors are co-first authors and have contributed equally to this work.
Edited by: Paola Sandroni, Mayo Clinic, United States
Reviewed by: Carmelo Rodolico, Università degli Studi di Messina, Italy; Domenico Tricarico, Università degli Studi di Bari Aldo Moro, Italy
This article was submitted to Neuromuscular Diseases, a section of the journal Frontiers in Neurology
ISSN:1664-2295
1664-2295
DOI:10.3389/fneur.2018.00430