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Startle disease in an Italian family by mutation (K276E): The α-subunit of the inhibiting glycine receptor

1997; Wiley; Volume: 9; Issue: 2 Linguagem: Inglês

10.1002/(sici)1098-1004(1997)9

1098-1004

Marco Seri, Alessandra Bolino, Luis J. V. Galietta, Margherita Lerone, Margherita Silengo, Giovanni Romeo,

Trypanosoma species research and implications

Human MutationVolume 9, Issue 2 p. 185-187 Mutations in Brief Startle disease in an Italian family by mutation (K276E): The α-subunit of the inhibiting glycine receptor Marco Seri, Marco Seri Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this authorAlessandra Bolino, Alessandra Bolino Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this authorLuis Juan Vicente Galietta, Luis Juan Vicente Galietta Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this authorMargherita Lerone, Margherita Lerone Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this authorMargherita Silengo, Margherita Silengo Istituto di Discipline Pediatriche, Università degli Studi di Torino, 10126 Torino, ItalySearch for more papers by this authorGiovanni Romeo, Corresponding Author Giovanni Romeo Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this author Marco Seri, Marco Seri Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this authorAlessandra Bolino, Alessandra Bolino Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this authorLuis Juan Vicente Galietta, Luis Juan Vicente Galietta Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this authorMargherita Lerone, Margherita Lerone Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this authorMargherita Silengo, Margherita Silengo Istituto di Discipline Pediatriche, Università degli Studi di Torino, 10126 Torino, ItalySearch for more papers by this authorGiovanni Romeo, Corresponding Author Giovanni Romeo Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Laboratorio di Genetica Molecolare, Istituto G. Gaslini, 16148 Genova, Italy; Fax 39-10-3779797Search for more papers by this author First published: 07 January 1999 https://doi.org/10.1002/(SICI)1098-1004(1997)9:2 3.0.CO;2-ZCitations: 18AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References Andermann F, Keene DL, Andermann E, Quesney LF (1980) Startle disease or hyperekplexia: further delineation of the syndrome. Brain 103: 985– 997. 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Langosch D, Hartung K, Grell E, Bamberg E, Betz H (1991) Ion channel formation by synthetic transmembrane segments of the inhibitory glycine receptor: A model study. Biochim Byophys Acta 1063: 36– 44. Nigro MA, Lim H-CN (1992) Hyperekplexia and sudden neonatal death. Pediatr Neurol 8: 221– 225. Rajendra S, Lynch JW, Pierce KD, French CR, Barry PH, Schofield PR (1994) Startle disease mutations reduce the agonist sensitivity of the human inhibitory glycine receptor. J Biol Chem 269: 18739– 18742. Rees MI, Andrew M, Jawad S, Owen MJ (1994) Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor. Hum Mol Genet 3: 2175– 2179. Ryan SG, Sherman SL, Terry JC, Sparkes, R, Torres C, Mackey R (1992) Startle disease or hyperekplexia: Response to Clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 31: 663– 668. Schorderet DF, Pescia G, Bernasconi A, Regli F (1994) An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene. Hum Mol Genet 3: 1201. Shiang R, Ryan SG, Zhu Y-Z, Hahn AF, O'Connell P, Wasmuth J (1993) Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genet 5: 351– 358. Shiang R, Ryan SG, Zhu Y-Z, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ (1995) Mutational analysis of famailaial and sporadic hyperekplexia. Ann Neurol 38: 85– 91. Suhren O, Bruyn GW, Tuynman JA (1966) Hyperekplexia: A hereditary startle syndrome. J Neurol Sci 3: 577– 605. Citing Literature Volume9, Issue21997Pages 185-187 ReferencesRelatedInformation