eprintid: 1482618 rev_number: 24 eprint_status: archive userid: 608 dir: disk0/01/48/26/18 datestamp: 2016-04-23 21:35:04 lastmod: 2021-10-04 01:48:01 status_changed: 2017-07-25 12:18:07 type: article metadata_visibility: show creators_name: Varley, J creators_name: Wehner, T creators_name: Sisodiya, S title: Diaphragm myoclonus followed by generalised atonia in a patient with trisomy 4p: unusual semiology in an unusual condition. ispublished: pub divisions: UCL divisions: B02 divisions: C07 divisions: D07 divisions: F81 keywords: atonic seizure, hiccups, seizure, trisomy 4p note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. abstract: In this report, we describe a female patient with trisomy 4p, a rare genetic condition, with unusual seizure semiology. The patient is one of the oldest reported survivors with this condition. This semiology was noted while she was being monitored by inpatient video telemetry. We observed a series of myoclonic shoulder jerks, followed by hiccup-like episodes, and finally an atonic head drop. Corresponding ictal EEG showed semi-rhythmic high-amplitude slow waves with spikes superimposed over the frontotemporal areas. This semiology was confirmed as habitual by her parents. Subsequent hiccup-like episodes had no EEG correlate, and the head drop was again associated with semi-rhythmic high-amplitude slow waves and superimposed spikes, more prominent over the right hemisphere. In addition, we review the several cases in which hiccups have been associated with seizures and how this may relate to the neural pathways involved in the pathophysiology of hiccups. We believe the ictal hiccup-like episodes followed by atonia to be a seizure semiology that has not previously been documented. date: 2015-12 date_type: published official_url: http://dx.doi.org/ 10.1684/epd.2015.0787 oa_status: green full_text_type: other language: eng primo: open primo_central: open_green article_type_text: Journal Article verified: verified_manual elements_id: 1090832 doi: 10.1684/epd.2015.0787 pii: epd.2015.0787 lyricists_name: Mirza, Ghazala lyricists_name: Sisodiya, Sanjay lyricists_name: Wehner, Tim lyricists_id: GKARI52 lyricists_id: SMSIS90 lyricists_id: TWEHN68 full_text_status: public publication: Epileptic Disord volume: 17 number: 4 pagerange: 473-477 event_location: France issn: 1950-6945 citation: Varley, J; Wehner, T; Sisodiya, S; (2015) Diaphragm myoclonus followed by generalised atonia in a patient with trisomy 4p: unusual semiology in an unusual condition. Epileptic Disord , 17 (4) pp. 473-477. 10.1684/epd.2015.0787 <https://doi.org/10.1684/epd.2015.0787>. Green open access document_url: https://discovery.ucl.ac.uk/id/eprint/1482618/1/Varley_diaphragm_myoclonus_followed_by_generalised.pdf