An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene
Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affe...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2010-10-01
|
| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-53-909.pdf |
| _version_ | 1818304901738921984 |
|---|---|
| author | Yang Hee Park June Bum Kim |
| author_facet | Yang Hee Park June Bum Kim |
| author_sort | Yang Hee Park |
| collection | DOAJ |
| description | Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene SCN4A, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications. |
| first_indexed | 2024-12-13T06:18:04Z |
| format | Article |
| id | doaj.art-455cbbeed28d4bd1824a42d417cb7d19 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-13T06:18:04Z |
| publishDate | 2010-10-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-455cbbeed28d4bd1824a42d417cb7d192022-12-21T23:56:54ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582010-10-01531090991210.3345/kjp.2010.53.10.9092010531007An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel geneYang Hee Park0June Bum Kim1Department of Pediatrics, Konyang University College of Medicine, Daejeon, Korea.Department of Pediatrics, Konyang University College of Medicine, Daejeon, Korea.Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene SCN4A, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.http://kjp.or.kr/upload/pdf/kjped-53-909.pdfHypokalemic periodic paralysisRespiratory insufficiencySodium channel |
| spellingShingle | Yang Hee Park June Bum Kim An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene Korean Journal of Pediatrics Hypokalemic periodic paralysis Respiratory insufficiency Sodium channel |
| title | An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene |
| title_full | An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene |
| title_fullStr | An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene |
| title_full_unstemmed | An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene |
| title_short | An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene |
| title_sort | atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene |
| topic | Hypokalemic periodic paralysis Respiratory insufficiency Sodium channel |
| url | http://kjp.or.kr/upload/pdf/kjped-53-909.pdf |
| work_keys_str_mv | AT yangheepark anatypicalphenotypeofhypokalemicperiodicparalysiscausedbyamutationinthesodiumchannelgene AT junebumkim anatypicalphenotypeofhypokalemicperiodicparalysiscausedbyamutationinthesodiumchannelgene AT yangheepark atypicalphenotypeofhypokalemicperiodicparalysiscausedbyamutationinthesodiumchannelgene AT junebumkim atypicalphenotypeofhypokalemicperiodicparalysiscausedbyamutationinthesodiumchannelgene |