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The properties of the wild type receptor composed of \u03b14 and \u03b22 subunits and the mutant receptor where \u03b14 subunits carried the mutation at serine 248 were compared by means of cDNA manipulation and expression in <jats:italic>Xenopus<\/jats:italic> oocytes. The mutant receptor exhibited faster desensitization upon activation by acetylcholine and recovery from the desensitized state was much slower than in the wild type receptor. We conclude that the reported mutation causes seizures via a diminution of the activity of the \u03b14\u03b22 neuronal nicotinic acetylcholine receptor.<\/jats:p>","DOI":"10.1016\/s0014-5793(96)01215-x","type":"journal-article","created":{"date-parts":[[2003,4,25]],"date-time":"2003-04-25T01:18:33Z","timestamp":1051233513000},"page":"91-96","source":"Crossref","is-referenced-by-count":133,"title":["An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics"],"prefix":"10.1002","volume":"398","author":[{"given":"Sigrid","family":"Weiland","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veit","family":"Witzemann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Villarroel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Propping","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ortrud","family":"Steinlein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1999,3,19]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ne.16.030193.002155"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00167110"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90555-X"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ph.57.030195.002513"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(92)90031-8"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/380347a0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bb.21.060192.001411"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033583500004352"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1993.1107"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/373037a0"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1957.sp005838"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/286071a0"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1982.sp014036"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1420"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/337647a0"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00207042"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90408-K"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-117"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)91463-X"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-201"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2462281"},{"key":"e_1_2_1_23_1","first-page":"1001","volume":"3","author":"Devillers-Thi\u00e9ry A.","year":"1992","journal-title":"Membr. 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