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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| Vydané v: | Frontiers in neurology Ročník 9; s. 430 |
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| Hlavní autori: | , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | English |
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Frontiers Media S.A
07.06.2018
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| Abstract | 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. |
|---|---|
| AbstractList | 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. 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 (SCN4A) gene is rarely reported. Only three pedigrees of NormoKPP related to mutations in the SCN4A p.M1592V have been previously reported. We herein presented a family case of NormoKPP associated with the SCN4A 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 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 skeletal muscle sodium channel alpha subunit (SCN4A) gene is rarely reported. Only three pedigrees of NormoKPP related to mutations in the SCN4A p.M1592V have been previously reported. We herein presented a family case of NormoKPP associated with the SCN4A 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 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 skeletal muscle sodium channel alpha subunit (SCN4A) gene is rarely reported. Only three pedigrees of NormoKPP related to mutations in the SCN4A p.M1592V have been previously reported. We herein presented a family case of NormoKPP associated with the SCN4A 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 SCN4A p.M1592V. |
| Author | Wang, Libo Li, Jia Fu, Chao Sang, Qiuling Liu, Xiaoyang Qi, Ling Wang, Zhenyu Chen, Jiajun Jin, Hui |
| AuthorAffiliation | 1 Department of Neurosurgery, China-Japan Union Hospital of Jilin University , Changchun , China 2 Department of Neurology, China-Japan Union Hospital of Jilin University , Changchun , China 3 Department of Pathophysiology, Jilin Medical University , Jilin , China |
| AuthorAffiliation_xml | – name: 3 Department of Pathophysiology, Jilin Medical University , Jilin , China – name: 2 Department of Neurology, China-Japan Union Hospital of Jilin University , Changchun , China – name: 1 Department of Neurosurgery, China-Japan Union Hospital of Jilin University , Changchun , China |
| Author_xml | – sequence: 1 givenname: Chao surname: Fu fullname: Fu, Chao – sequence: 2 givenname: Zhenyu surname: Wang fullname: Wang, Zhenyu – sequence: 3 givenname: Libo surname: Wang fullname: Wang, Libo – sequence: 4 givenname: Jia surname: Li fullname: Li, Jia – sequence: 5 givenname: Qiuling surname: Sang fullname: Sang, Qiuling – sequence: 6 givenname: Jiajun surname: Chen fullname: Chen, Jiajun – sequence: 7 givenname: Ling surname: Qi fullname: Qi, Ling – sequence: 8 givenname: Hui surname: Jin fullname: Jin, Hui – sequence: 9 givenname: Xiaoyang surname: Liu fullname: Liu, Xiaoyang |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/29930533$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_3389_fneur_2019_01138 crossref_primary_10_1016_j_nmd_2020_12_003 crossref_primary_10_1177_0300060520953643 crossref_primary_10_1016_j_nmd_2021_03_014 |
| Cites_doi | 10.1073/pnas.0810562105 10.1007/s10571-014-0052-y 10.1002/ana.10257 10.1016/0002-9343(61)90122-X 10.1016/S0065-2660(08)01001-8 10.1002/mus.23441 10.1093/brain/awt300 10.1136/jnnp.2009.177451 10.1002/mus.23803 10.1007/s10571-007-9231-4 10.1212/01.WNL.0000145768.09934.EC 10.5692/clinicalneurol.54.434 |
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| Copyright | Copyright © 2018 Fu, Wang, Wang, Li, Sang, Chen, Qi, Jin and Liu. 2018 Fu, Wang, Wang, Li, Sang, Chen, Qi, Jin and Liu |
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| Keywords | pedigree respiratory muscle paralysis normokalemic periodic paralysis SCN4A mutations |
| Language | English |
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| References | Vicart (B5) 2004; 63 Fontaine (B1) 2008; 63 Chinnery (B2) 2002; 52 Poskanzer (B12) 1961; 31 Wu (B10) 2014; 34 Hong (B4) 2010; 81 Sokolov (B9) 2008; 105 Xiuhai (B3) 2008; 28 Shiga (B7) 2014; 54 Lee (B6) 2013; 48 Song (B8) 2012; 46 Fan (B11) 2013; 136 |
| References_xml | – volume: 105 start-page: 19980 year: 2008 ident: B9 article-title: Depolarization activated gating pore current conducted by mutant sodium channels in potassium sensitive normokalemic periodic paralysis publication-title: Proc Natl Acad Sci USA. doi: 10.1073/pnas.0810562105 – volume: 34 start-page: 707 year: 2014 ident: B10 article-title: Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis publication-title: Cell Mol Neurobiol doi: 10.1007/s10571-014-0052-y – volume: 52 start-page: 251 year: 2002 ident: B2 article-title: Normokalemic periodic paralysis revisited: does it exist? publication-title: Ann Neurol. doi: 10.1002/ana.10257 – volume: 31 start-page: 328 year: 1961 ident: B12 article-title: A third type of periodic paralysis, with normokalemia and favourable response to sodium chloride publication-title: Am J Med. doi: 10.1016/0002-9343(61)90122-X – volume: 63 start-page: 3 year: 2008 ident: B1 article-title: Periodic paralysis publication-title: Adv Genet. doi: 10.1016/S0065-2660(08)01001-8 – volume: 46 start-page: 914 year: 2012 ident: B8 article-title: Normokalemic periodic paralysis is not a distinct disease publication-title: Muscle Nerve doi: 10.1002/mus.23441 – volume: 136 start-page: 3775 year: 2013 ident: B11 article-title: Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1 publication-title: Brain doi: 10.1093/brain/awt300 – volume: 81 start-page: 703 year: 2010 ident: B4 article-title: Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene publication-title: J Neurol Neurosurg Psychiatry doi: 10.1136/jnnp.2009.177451 – volume: 48 start-page: 306 year: 2013 ident: B6 article-title: A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness publication-title: Muscle Nerve doi: 10.1002/mus.23803 – volume: 28 start-page: 653 year: 2008 ident: B3 article-title: Mutations of sodium channel a-subunit genes in chinese patients with normokalemic periodic paralysis publication-title: Cell Mol Neurobiol. doi: 10.1007/s10571-007-9231-4 – volume: 63 start-page: 2120 year: 2004 ident: B5 article-title: New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis publication-title: Neurology doi: 10.1212/01.WNL.0000145768.09934.EC – volume: 54 start-page: 434 year: 2014 ident: B7 article-title: Normokalemic periodic paralysis lasting for two weeks:a severe form of sodium channelopathywith M1592V mutation publication-title: Rinsho Shinkeigaku doi: 10.5692/clinicalneurol.54.434 |
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| Title | Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V |
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