{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T07:58:12Z","timestamp":1773302292282,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Australian International Science Linkages"},{"name":"Australian Government EIF Super Science Funds"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Episodic Ataxia type 2 (<jats:styled-content style=\"fixed-case\">EA<\/jats:styled-content>2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo, and episodes of ataxia lasting minutes to hours. <jats:styled-content style=\"fixed-case\">EA<\/jats:styled-content>2 is caused most often by loss of function mutations of the calcium channel gene <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic>. In addition to <jats:styled-content style=\"fixed-case\">EA<\/jats:styled-content>2, mutations in <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic> are responsible for two other allelic disorders: familial hemiplegic migraine type 1 (<jats:styled-content style=\"fixed-case\">FHM<\/jats:styled-content>1) and spinocerebellar ataxia type 6 (<jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content>6). Herein, we have utilized next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) to screen the coding sequence, exon\u2010intron boundaries, and Untranslated Regions (<jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content>s) of five genes where mutation is known to produce symptoms related to <jats:styled-content style=\"fixed-case\">EA<\/jats:styled-content>2, including <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic>. We performed this screening in a group of 31 unrelated patients with <jats:styled-content style=\"fixed-case\">EA<\/jats:styled-content>2 symptoms. Both novel and known mutations were detected through <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> technology, and confirmed through Sanger sequencing. Genetic testing showed in total 15 mutation bearing patients (48%), of which nine were novel mutations (6 missense and 3 small frameshift deletion mutations) and six known mutations (4 missense and 2 nonsense).These results demonstrate the efficiency of our <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>\u2010panel for detecting known and novel mutations for <jats:styled-content style=\"fixed-case\">EA<\/jats:styled-content>2 in the <jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>1A<\/jats:italic> gene, also identifying a novel missense mutation in <jats:italic><jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content>1A2<\/jats:italic> which is not a normal target for <jats:styled-content style=\"fixed-case\">EA<\/jats:styled-content>2 screening.<\/jats:p>","DOI":"10.1002\/mgg3.196","type":"journal-article","created":{"date-parts":[[2016,1,21]],"date-time":"2016-01-21T00:22:39Z","timestamp":1453335759000},"page":"211-222","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Next\u2010generation sequencing identifies novel <i><scp>CACNA<\/scp>1A<\/i> gene mutations in episodic ataxia type 2"],"prefix":"10.1002","volume":"4","author":[{"given":"Neven","family":"Maksemous","sequence":"first","affiliation":[{"name":"Genomics Research Centre Institute of Health and Biomedical Innovation (IHBI) Queensland University of Technology (QUT) Q Block 60 Musk Ave Kelvin Grove Campus Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bishakha","family":"Roy","sequence":"additional","affiliation":[{"name":"Genomics Research Centre Institute of Health and Biomedical Innovation (IHBI) Queensland University of Technology (QUT) Q Block 60 Musk Ave Kelvin Grove Campus Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert A.","family":"Smith","sequence":"additional","affiliation":[{"name":"Genomics Research Centre Institute of Health and Biomedical Innovation (IHBI) Queensland University of Technology (QUT) Q Block 60 Musk Ave Kelvin Grove Campus Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lyn R.","family":"Griffiths","sequence":"additional","affiliation":[{"name":"Genomics Research Centre Institute of Health and Biomedical Innovation (IHBI) Queensland University of Technology (QUT) Q Block 60 Musk Ave Kelvin Grove Campus Brisbane Queensland Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,1,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.1.38"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.01.005"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-2982.2009.01958.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr1055"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2002.tb00311.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.12.1259"},{"key":"e_1_2_8_9_1","unstructured":"Jaffer F. 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