{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T23:57:23Z","timestamp":1787875043804,"version":"build-2784847793"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,11,24]],"date-time":"2020-11-24T00:00:00Z","timestamp":1606176000000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pitt\u2010Hopkins syndrome is a rare genetic disease, characterised by severe intellectual disability, distinctive dysmorphic features, epilepsy and distinctive breathing abnormalities during wakefulness. Here, we describe the case of a 22\u2010year\u2010old woman with Pitt\u2010Hopkins syndrome who presented with intractable generalised tonic seizures from the age of 11 years, which increased in frequency with age and onset of menstruation despite usage of some anticonvulsant drugs. From the age of 16 years, polysomnography and video\u2010EEG led to the detection of frequent epileptic apnoea during sleep. Although the frequency of generalised tonic seizure clusters was reduced by treatment with phenobarbital and potassium bromide, epileptic apnoea persisted. Furthermore, frequent epileptic apnoea observed in our patient was regarded as a factor for aspiration and deterioration of respiratory function. This study indicates that patients with Pitt\u2010Hopkins syndrome require close monitoring for epileptic apnoea. Moreover, long\u2010term EEG and respiratory monitoring are necessary to distinguish epileptic apnoea from other respiratory disorders in patients with Pitt\u2010Hopkins syndrome.<\/jats:p>","DOI":"10.1684\/epd.2020.1212","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T12:21:17Z","timestamp":1604492477000},"page":"673-677","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Frequent epileptic apnoea in a patient with Pitt\u2010Hopkins syndrome"],"prefix":"10.1002","volume":"22","author":[{"given":"Hiroyuki","family":"Yamada","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Department of Brain and Neurosciences Faculty of Medicine, Tottori University  Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Tamasaki","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Brain and Neurosciences Faculty of Medicine, Tottori University  Yonago Japan"},{"name":"Hakuai Child Development Home Care Support Clinic  Yonago Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayoshi","family":"Oguri","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Brain and Neurosciences Faculty of Medicine, Tottori University  Yonago Japan"},{"name":"Clinical Examination Department, Faculty of Health Sciences Kagawa Prefectural University of Health Sciences  Takamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikumi","family":"Hori","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology Nagoya City University Graduate School of Medical Sciences  Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Saitoh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology Nagoya City University 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