{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T03:26:26Z","timestamp":1791516386871,"version":"4.3.4"},"reference-count":18,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,7,10]],"date-time":"2023-07-10T00:00:00Z","timestamp":1688947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008062","name":"Fundaci\u00f3n Alicia Koplowitz","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS077015"],"award-info":[{"award-number":["NS077015"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS094257"],"award-info":[{"award-number":["NS094257"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["NS102588"],"award-info":[{"award-number":["NS102588"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epilepsy constitutes the most common paroxysmal manifestation of glucose transporter type 1 deficiency (G1D) and is generally considered medication\u2010refractory. It can also prove therapeutic diet\u2010resistant. We examined acetazolamide effects in G1D motivated by several longstanding and recent observations: First, the electrographic spike\u2010waves characteristic of absence seizures often resemble those of G1D and, since the 1950s, they have occasionally been treated successfully with acetazolamide, well before G1D was segregated from absence epilepsy as a distinct syndrome. Second, synaptic inhibitory neuron failure characterizes G1D and, in other experimental models, this can be ameliorated by drugs that modify cellular chloride gradient such as acetazolamide. Third, acetazolamide potently stimulates model cell glucose transport in vitro. Seventeen antiepileptic drug or therapeutic diet\u2010refractory individuals with G1D treated with acetazolamide were thus identified via medical record review complemented by worldwide individual survey. Acetazolamide was tolerated and decreased seizures in 76% of them, with 58% of all persons studied experiencing seizure reductions by more than one\u2010half, including those who first manifested myoclonic\u2010astatic epilepsy or infantile spams. Eighty\u2010eight percent of individuals with G1D continued taking acetazolamide for over 6\u2009months, indicating sustained tolerability and efficacy. The results provide a novel avenue for the treatment and mechanistic investigation of G1D.<\/jats:p>","DOI":"10.1111\/epi.17684","type":"journal-article","created":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T15:05:04Z","timestamp":1687187104000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4074-6870","authenticated-orcid":false,"given":"Ignacio","family":"M\u00e1laga","sequence":"first","affiliation":[{"name":"Rare Brain Disorders Program, Department of Neurology The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Avila","sequence":"additional","affiliation":[{"name":"Rare Brain Disorders Program, Department of Neurology The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Primeaux","sequence":"additional","affiliation":[{"name":"Rare Brain Disorders Program, Department of Neurology The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason Y.","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pathology The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Eugene McDermott Center for Human Growth &amp; Development\/Center for Human Genetics The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0843-8221","authenticated-orcid":false,"given":"Juan M.","family":"Pascual","sequence":"additional","affiliation":[{"name":"Rare Brain Disorders Program, Department of Neurology The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Eugene McDermott Center for Human Growth &amp; Development\/Center for Human Genetics The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Physiology The University of Texas Southwestern Medical Center  Dallas Texas USA"},{"name":"Department of Pediatrics The University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,10]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"Rosenberg's molecular and genetic basis of neurological and psychiatric disease","author":"Pascual JM"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.abn2956"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12619"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.4968.650"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0883"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1124\/jpet.122.001428"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2017.0298"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10311"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.4.noc60165"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23702"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2003.05302.x"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12414"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-013-0342-7"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812471718"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-010-5702-5"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/NRL.0000000000000168"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200002033420503"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/0271678X221146121"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.17684","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T19:53:20Z","timestamp":1700682800000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.17684"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,10]]},"references-count":18,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1111\/epi.17684"],"URL":"https:\/\/doi.org\/10.1111\/epi.17684","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,10]]},"assertion":[{"value":"2023-04-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}