{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T16:22:59Z","timestamp":1775146979396,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,3,6]],"date-time":"2025-03-06T00:00:00Z","timestamp":1741219200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We present the case of a child who developed focal seizures, emotional and behavioral dysregulation, and sleep abnormalities at age 5. Trio whole genome sequencing identified biallelic mutations in the\n                    <jats:italic>SDHA<\/jats:italic>\n                    gene, which encodes a key component of mitochondrial complex II. Mitochondrial respiratory chain activities and muscle biopsy confirmed impaired oxidative metabolism. Yeast\n                    <jats:styled-content style=\"fixed-case\">\n                      <jats:italic>Saccharomyces cerevisiae<\/jats:italic>\n                    <\/jats:styled-content>\n                    complementation assays showed that all the mutations were presumably disease related. Mutations in\n                    <jats:italic>SDHA<\/jats:italic>\n                    are associated with developmental delay, hypotonia, ataxia, together with bilateral hyperintensities in the basal ganglia at brain MRI. This case corroborates the phenotypic variability of SDHA variants and highlights the relevance of functional assays in validating genetic findings.\n                  <\/jats:p>","DOI":"10.1111\/cge.14738","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T00:15:36Z","timestamp":1741738536000},"page":"323-328","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Impact of\n                    <scp>SDHA<\/scp>\n                    Mutations on Yeast Growth and Mitochondrial Function. Case Study Linking Genetic Findings to Clinical Phenotypes"],"prefix":"10.1111","volume":"108","author":[{"given":"Camilla","family":"Meossi","sequence":"first","affiliation":[{"name":"IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"De Falco","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7061-4972","authenticated-orcid":false,"given":"Marco","family":"Marchi","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy; Clinical Genetics Lab Citt\u00e0 Della Speranza Pediatric Research Institute  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Rubegni","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Pagano","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosanna","family":"Trovato","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Nesti","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavio Dal","family":"Canto","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuele","family":"Bartolini","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Women's and Children's Health, University of Padua, Padua, Italy; Clinical Genetics Lab Citt\u00e0 Della Speranza Pediatric Research Institute  Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1359-9062","authenticated-orcid":false,"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[{"name":"IRCCS Stella Maris Foundation  Pisa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2019.08.009"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10202"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2017-204677"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv078"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/npjgenmed.2016.1"},{"key":"e_1_2_10_7_1","unstructured":"\u201cUpdated Classification of Epileptic Seizures: Position Paper of the International League Against Epilepsy \u201dhttps:\/\/www.ilae.org\/guidelines\/guidelines\u2010and\u2010reports\/updated\u2010classification\u2010of\u2010epileptic\u2010seizures\u2010position\u2010paper\u2010of\u2010the\u2010international\u2010league\u2010against\u2010epilepsy."},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-0799-1_4"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds487"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389000500311"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.968"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9487-9"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-023-00824-1"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-024-01763-1"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105800"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101146"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T03:33:29Z","timestamp":1754278409000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,6]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1111\/cge.14738"],"URL":"https:\/\/doi.org\/10.1111\/cge.14738","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14738\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14738\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14738\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14738\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14738\/v1\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,6]]},"assertion":[{"value":"2024-12-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}