{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T13:46:18Z","timestamp":1768484778359,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2001,8,31]],"date-time":"2001-08-31T00:00:00Z","timestamp":999216000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2001,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A novel mutation in a family with hypokalemic periodic paralysis is described. The mutation R672S is located in the voltage sensor segment S4 of domain II in the <jats:italic>SCN4A<\/jats:italic> gene encoding the human skeletal muscle voltage\u2010gated sodium channel. Functional expression of the R672S channels in human embryonic kidney 293 cells revealed a small but significant hyperpolarizing shift in the steady\u2010state fast inactivation, and a dramatic enhancement in channel slow inactivation. These two defects are mainly due to a slow recovery of the mutant channels from fast and\/or slow inactivation. Our data may help explain the mechanism underlying hypokalemic periodic paralysis and the patient's worsening from acetazolamide.<\/jats:p>","DOI":"10.1002\/ana.1144","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T19:58:07Z","timestamp":1030305487000},"page":"417-420","source":"Crossref","is-referenced-by-count":62,"title":["Sodium channel inactivation defects are associated with acetazolamide\u2010exacerbated hypokalemic periodic paralysis"],"prefix":"10.1002","volume":"50","author":[{"given":"Sa\u00efd","family":"Bendahhou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theodore R.","family":"Cummins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert C.","family":"Griggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying\u2010Hui","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louis J.","family":"Pt\u00e1\u010dek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,8,31]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90135-X"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1415"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.9.1932"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1995.sp020586"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(96)00173-1"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-24-10320.1998"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.20-23-08610.2000"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.7.1556"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.17.9549"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.11.1423"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI9654"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00656997"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(96)79219-6"},{"key":"e_1_2_6_15_2","doi-asserted-by":"crossref","first-page":"4762","DOI":"10.1523\/JNEUROSCI.19-12-04762.1999","article-title":"Activation and inactivation of the voltage\u2010gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation","volume":"19","author":"Bendahhou S","year":"1999","journal-title":"J Neurosci"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(96)00401-4"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(99)77249-8"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.1144","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.1144","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T12:58:42Z","timestamp":1700398722000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.1144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,8,31]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,9]]}},"alternative-id":["10.1002\/ana.1144"],"URL":"https:\/\/doi.org\/10.1002\/ana.1144","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,8,31]]}}}