{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:14:58Z","timestamp":1740183298858,"version":"3.37.3"},"reference-count":0,"publisher":"Maad Rayan Publishing Company","issue":"12","content-domain":{"domain":["journalaim.com"],"crossmark-restriction":false},"short-container-title":["Arch Iran Med"],"published-print":{"date-parts":[[2022,12,1]]},"abstract":"<jats:p>Background: Ion channel dysfunction in the brain can lead to impairment of neuronal membranes and generate several neurological diseases, especially neurodevelopmental disorders. Methods: In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectual disability (ID) and\/or developmental delay (DD) in whom genetic mutations were identified by next-generation sequencing (NGS) in 7 channel-encoding genes: KCNJ10, KCNQ3, KCNK6, CACNA1C, CACNA1G, SCN8A, and GRIN2B. Moreover, the data of 340 previously fully reported ID and\/or DD cases with a mutation in any of these seven genes were combined with our patients to clarify the genotype and phenotype spectrum in this group. Results: In total, the most common phenotypes in 354 cases with ID\/DD in whom mutation in any of these 7 channel-encoding genes was identified were as follows: ID (77.4%), seizure (69.8%), DD (59.8%), behavioral abnormality (29.9%), hypotonia (21.7%), speech disorder (21.5%), gait disturbance (20.9%), and ataxia (20.3%). Electroencephalography abnormality (33.9%) was the major brain imaging abnormality. Conclusion: The results of this study broaden the molecular spectrum of channel pathogenic variants associated with different clinical presentations in individuals with ID and\/or DD. <\/jats:p>","DOI":"10.34172\/aim.2022.124","type":"journal-article","created":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T08:05:55Z","timestamp":1681718755000},"page":"788-797","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability"],"prefix":"10.34172","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1769-6329","authenticated-orcid":true,"given":"Naeim","family":"Ehtesham","sequence":"first","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meysam","family":"Mosallaei","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5609-7724","authenticated-orcid":true,"given":"Maryam","family":"Beheshtian","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahrouz","family":"Khoshbakht","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahsa","family":"Fadaee","sequence":"additional","affiliation":[{"name":"Kariminejad \u2013 Najmabadi Pathology & Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raheleh","family":"Vazehan","sequence":"additional","affiliation":[{"name":"Kariminejad \u2013 Najmabadi Pathology & Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehrshid","family":"Faraji Zonooz","sequence":"additional","affiliation":[{"name":"Kariminejad \u2013 Najmabadi Pathology & Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6302-9973","authenticated-orcid":true,"given":"Parvaneh","family":"Karimzadeh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, School of Medicine, Pediatric Neurology Research Center, Mofid Children\u2019s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimia","family":"Kahrizi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6084-7778","authenticated-orcid":true,"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran"},{"name":"Kariminejad \u2013 Najmabadi Pathology & Genetics Center, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"20123","published-online":{"date-parts":[[2022,12,1]]},"container-title":["Archives of Iranian Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journalaim.com\/PDF\/aim-25-788.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journalaim.com\/PDF\/aim-25-788.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T08:05:55Z","timestamp":1681718755000},"score":1,"resource":{"primary":{"URL":"http:\/\/journalaim.com\/Article\/aim-24132"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,1]]},"references-count":0,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,12,1]]},"published-print":{"date-parts":[[2022,12,1]]}},"URL":"https:\/\/doi.org\/10.34172\/aim.2022.124","relation":{},"ISSN":["1029-2977","1735-3947"],"issn-type":[{"type":"print","value":"1029-2977"},{"type":"electronic","value":"1735-3947"}],"subject":[],"published":{"date-parts":[[2022,12,1]]},"assertion":[{"value":"Academy of Medical Sciences of I.R. Iran","name":"journal_owner","label":"Journal Owner"},{"value":"Academy of Medical Sciences of I.R. Iran","name":"journal_publisher","label":"Journal Publisher"},{"value":"2021-10-03","order":1,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}