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