{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T13:43:48Z","timestamp":1780580628391,"version":"3.54.1"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,8,17]],"date-time":"2022-08-17T00:00:00Z","timestamp":1660694400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium\u2010chain acyl\u2010coenzyme A dehydrogenase deficiency (MCADD), who presented with an early\u2010onset focal motor status epilepticus (SE) then followed by permanent left hemiplegia and drug\u2010resistant epilepsy with neurodevelopmental delay. Throughout her clinical history, recurrent episodes of lethargy, feeding difficulties, and clustering seizures occurred, progressing into a super refractory SE and death at the age of 25\u2009years. Although epilepsy is not a distinctive feature of MCADD, we advise considering this metabolic disease as a possible etiology of epileptic encephalopathy and hemiconvulsion\u2010hemiplegia\u2010epilepsy syndrome of unknown origin, on the chance to provide a timely and targeted treatment preventing development delay and evolution to SE. Adult patients with epilepsy of unknown etiology not screened at birth for inborn errors of metabolism, such as MCADD, should be promptly investigated for these treatable conditions.<\/jats:p>","DOI":"10.1002\/epi4.12630","type":"journal-article","created":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T08:48:56Z","timestamp":1658566136000},"page":"810-816","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with <scp>medium\u2010chain acyl\u2010coenzyme<\/scp> A dehydrogenase deficiency"],"prefix":"10.1002","volume":"7","author":[{"given":"Ilaria","family":"Cani","sequence":"first","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna  Bologna 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