{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T14:26:44Z","timestamp":1753885604515,"version":"3.41.2"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T00:00:00Z","timestamp":1668470400000},"content-version":"vor","delay-in-days":318,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","award":["8369\/Punjab\/NRPU\/R&D\/HEC\/2017"],"award-info":[{"award-number":["8369\/Punjab\/NRPU\/R&D\/HEC\/2017"]}],"id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>Idiopathic generalized epilepsy (IGE) is the most prevalent type of epilepsy with genetic origin. Mutations in ion channel genes have been identified as a common cause of IGE. Several studies have reported various epilepsy risk variants of <jats:italic>GABRG2<\/jats:italic> (<jats:italic>gamma-aminobutyric acid type A receptor subunit gamma2 subunit<\/jats:italic>) gene in different ethnic groups, but the results are inconsistent. The purpose of this case\u2010control research is to determine if <jats:italic>GABRG2<\/jats:italic> polymorphisms contribute to IGE susceptibility and antiepileptic drug resistance in Pakistani population. For this purpose, we genotyped exon2, exon5 (<jats:italic>C540T<\/jats:italic> and <jats:italic>C588T<\/jats:italic>), exon7 (<jats:italic>T813C<\/jats:italic>), exon8 (<jats:italic>K289M<\/jats:italic>), and exon9 of <jats:italic>GABRG2<\/jats:italic> gene by restriction fragment length polymorphism and Sanger\u2019s sequencing in 87 drug\u2010responsive idiopathic generalized epilepsy patients, 55 drug\u2010resistant epilepsy patients, and 83 healthy controls. Restriction fragment length polymorphism (RFLP) and sequencing results indicated only <jats:italic>C588T<\/jats:italic> polymorphism in the studied subjects. The comparison of genotypic and allelic frequencies showed significant differences between IGE patients and control groups (<jats:italic>P<\/jats:italic> = 0.008 and odds ratio = 4.2) and nonsignificant association of C588T polymorphism in antiseizure medication\u2010resistant patients (<jats:italic>P<\/jats:italic> = 0.9). Our findings showed that <jats:italic>C588T<\/jats:italic> polymorphism of <jats:italic>GABRG2<\/jats:italic> is a risk variant for IGE in Pakistani population. Further studies are required to validate the results.<\/jats:p>","DOI":"10.1155\/2022\/3460792","type":"journal-article","created":{"date-parts":[[2022,11,16]],"date-time":"2022-11-16T01:35:07Z","timestamp":1668562507000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>GABRG2 C588T<\/i> Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4920-1463","authenticated-orcid":false,"given":"Tayyaba","family":"Saleem","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3030-2339","authenticated-orcid":false,"given":"Hafsa","family":"Maqbool","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9503-9538","authenticated-orcid":false,"given":"Nadeem","family":"Sheikh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0629-3740","authenticated-orcid":false,"given":"Asima","family":"Tayyeb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3571-5447","authenticated-orcid":false,"given":"Maryam","family":"Mukhtar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9740-4834","authenticated-orcid":false,"given":"Aqsa","family":"Ashfaq","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,15]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2005.66104.x"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003509"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2010.02.009"},{"key":"e_1_2_11_4_2","first-page":"519","article-title":"Recently defined genetic epilepsy syndromes","author":"Picard F.","year":"2005","journal-title":"Epileptic Syndromes in Infancy, Childhood and Adolescence"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0920-1211(02)00152-3"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430405"},{"key":"e_1_2_11_7_2","first-page":"157","volume-title":"Epileptic Seizures and Syndromes with Some of Their Theoretical Implications","author":"Berkovic S. 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