Sudden unexpected death in epilepsy: People with nocturnal seizures may be at highest risk [PDF]
, 2011 Robert J. Lamberts +4 more
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HemaSphere, Volume 9, Issue 6, June 2025.Abstract Congenital neutropenia (CN) comprises a heterogeneous group of rare genetic disorders. While some CN cases present only with neutropenia, others present with additional extra‐hematological manifestations. The most common cause of CN is variants in ELANE; however, approximately 30 other genes have been implicated.
Séverine Marti +32 more
wiley +1 more source
Explaining the Unexplained; Expecting the Unexpected: Where Are We with Sudden Unexpected Death in Epilepsy? [PDF]
, 2011 Elizabeth Donner
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“Unifying the definitions of sudden unexpected death in epilepsy”: A pediatric perspective [PDF]
, 2012 Martin Kirkpatrick, Rob Forsyth
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Ictal bradycardia syndrome: an underdiagnosed cause of recurrent syncope and sudden unexpected death in epilepsy (SUDEP) [PDF]
, 2013 Martin Hemels, Q.H. Leyten
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Cardiac Investigations in Sudden Unexpected Death in
, 2021 Alexandre Bacq +13 more
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Sudden Unexpected Death In Epilepsy (SUDEP) - an update
Journal of Epileptology, 2013 Introduction. SUDEP is not so rare event, unexplained, underused and underestimated. Its awareness has recently contributed to a number of initiatives for global action and clinical and experimental research. Aim. To undertake a literature review so as to update various aspects of SUDEP: pathophysiological mechanisms, potential markers for autonomic ...
openaire +3 more sources
Possible role of SCN4A skeletal muscle mutation in apnoea during seizure [PDF]
, 2019 SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea.
Gündoğdu, A +8 more
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Мiryachit: A Culture‐Specific Startle Syndrome in the Saami People
Movement Disorders Clinical Practice, Volume 12, Issue 6, Page 807-816, June 2025.Abstract Background Miryachit is perhaps the most complex and least understood of the culture‐specific startle syndromes that include latah and the jumping Frenchmen of Maine. Objectives We carried out a field study to evaluate startle‐induced paroxysms in the Saami to determine if it is still endemic and, if so, to contrast it with the available ...
Marianna Selikhova +3 more
wiley +1 more source
Sudden unexpected death in epilepsy: Fatal post-ictal respiratory and arousal mechanisms [PDF]
, 2013 Levi P. Sowers +4 more
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