Literature DB >> 25734955

Mechanisms of sudden unexplained death in epilepsy.

Alica M Goldman1.   

Abstract

PURPOSE OF REVIEW: Human and experimental research has identified cardioautonomic and respiratory dysfunction as a frequent accompaniment in human and animal model events of sudden unexpected death in epilepsy (SUDEP). This review aims to provide an overview of the scientific evidence behind the currently accepted risk factors and working hypotheses regarding SUDEP pathophysiology. RECENT
FINDINGS: Epidemiological analysis of public health burden of SUDEP has shown that it rates second only to stroke in the years of potential life lost. Clinical and experimental studies uncovered the dynamic cardiorespiratory dysfunction interictally and imminently to SUDEP, and model systems have facilitated discoveries in SUDEP mechanistic understanding and application of pilot therapeutic interventions. Pilot molecular profiling of human SUDEP has uncovered complex genomic structure in the candidate gene network.
SUMMARY: Extensive clinical and experimental work has established a rationale for the conceptual thinking about SUDEP mechanisms. The application of the global molecular profiling will be invaluable in unraveling the individually unique genomic complexities and interactions that underlie the physiological signature of each patient. At the same time, sophisticated model systems will be critical in the iterative translation of human genetics, physiology, pharmacological interventions, and in testing preventive interventions.

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Year:  2015        PMID: 25734955      PMCID: PMC5034868          DOI: 10.1097/WCO.0000000000000184

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN: 1350-7540            Impact factor:   5.710


  103 in total

1.  Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

Authors:  A V Postma; I Denjoy; J Kamblock; M Alders; J-M Lupoglazoff; G Vaksmann; L Dubosq-Bidot; P Sebillon; M M A M Mannens; P Guicheney; A A M Wilde
Journal:  J Med Genet       Date:  2005-11       Impact factor: 6.318

2.  Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation.

Authors:  Neeti Hindocha; Lina Nashef; Frances Elmslie; Rachael Birch; Sameer Zuberi; Ammar Al-Chalabi; Lia Crotti; Peter J Schwartz; Andrew Makoff
Journal:  Epilepsia       Date:  2008-02       Impact factor: 5.864

3.  Effects of the antiepileptic drugs lamotrigine, topiramate and gabapentin on hERG potassium currents.

Authors:  Bengt R Danielsson; Kate Lansdell; Leslie Patmore; Torbjörn Tomson
Journal:  Epilepsy Res       Date:  2004-12-08       Impact factor: 3.045

4.  Serotonin and sudden death: differential effects of serotonergic drugs on seizure-induced respiratory arrest in DBA/1 mice.

Authors:  Carl L Faingold; Srinivasa P Kommajosyula; X Long; Kristin Plath; Marcus Randall
Journal:  Epilepsy Behav       Date:  2014-07-26       Impact factor: 2.937

5.  PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

Authors:  Germaine Liebrechts-Akkerman; Fan Liu; Oscar Lao; Ariadne H A G Ooms; Kate van Duijn; Mark Vermeulen; Vincent W Jaddoe; Albert Hofman; Adèle C Engelberts; Manfred Kayser
Journal:  Int J Legal Med       Date:  2014-01-18       Impact factor: 2.686

6.  Hyper-SUMOylation of the Kv7 potassium channel diminishes the M-current leading to seizures and sudden death.

Authors:  Yitao Qi; Jingxiong Wang; Valerie C Bomben; De-Pei Li; Shao-Rui Chen; Hao Sun; Yutao Xi; John G Reed; Jinke Cheng; Hui-Lin Pan; Jeffrey L Noebels; Edward T H Yeh
Journal:  Neuron       Date:  2014-09-03       Impact factor: 17.173

7.  Sudden unexpected death in a mouse model of Dravet syndrome.

Authors:  Franck Kalume; Ruth E Westenbroek; Christine S Cheah; Frank H Yu; John C Oakley; Todd Scheuer; William A Catterall
Journal:  J Clin Invest       Date:  2013-03-25       Impact factor: 14.808

8.  Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Authors:  R H Wallace; D W Wang; R Singh; I E Scheffer; A L George; H A Phillips; K Saar; A Reis; E W Johnson; G R Sutherland; S F Berkovic; J C Mulley
Journal:  Nat Genet       Date:  1998-08       Impact factor: 38.330

9.  Association between the -1438G/A and T102C polymorphisms of 5-HT2A receptor gene and obstructive sleep apnea: a meta-analysis.

Authors:  Ying Wu; Hong-Bing Liu; Ming Ding; Jian-Nan Liu; Xuan-Feng Zhu; Jian-Hua Gu; Gan Lu
Journal:  Mol Biol Rep       Date:  2013-09-25       Impact factor: 2.316

10.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962

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  10 in total

1.  Severe peri-ictal respiratory dysfunction is common in Dravet syndrome.

Authors:  YuJaung Kim; Eduardo Bravo; Caitlin K Thirnbeck; Lori A Smith-Mellecker; Se Hee Kim; Brian K Gehlbach; Linda C Laux; Xiuqiong Zhou; Douglas R Nordli; George B Richerson
Journal:  J Clin Invest       Date:  2018-02-12       Impact factor: 14.808

2.  The effect of vitamin U on the lung tissue of pentyleneterazole-induced seizures in rats.

Authors:  Sehkar Oktay; Gamze Bayrak; Burcin Alev; Hazal Ipekci; Unsal Veli Ustundag; Ismet Burcu Turkyilmaz; Rabia Pisiriciler; Ebru Emekli-Alturfan; Tugba Tunali-Akbay; Refiye Yanardag; Aysen Yarat
Journal:  Naunyn Schmiedebergs Arch Pharmacol       Date:  2017-12-07       Impact factor: 3.000

Review 3.  Unexpected death in palliative care: what to expect when you are not expecting.

Authors:  David Hui
Journal:  Curr Opin Support Palliat Care       Date:  2015-12       Impact factor: 2.302

4.  SUDEP in the North American SUDEP Registry: The full spectrum of epilepsies.

Authors:  Chloe Verducci; Fizza Hussain; Elizabeth Donner; Brian D Moseley; Jeffrey Buchhalter; Dale Hesdorffer; Daniel Friedman; Orrin Devinsky
Journal:  Neurology       Date:  2019-06-19       Impact factor: 9.910

5.  Kv1.1 potassium channel subunit deficiency alters ventricular arrhythmia susceptibility, contractility, and repolarization.

Authors:  Krystle Trosclair; Man Si; Megan Watts; Nicole M Gautier; Niels Voigt; James Traylor; Miklós Bitay; Istvan Baczko; Dobromir Dobrev; Kathryn A Hamilton; Md Shenuarin Bhuiyan; Paari Dominic; Edward Glasscock
Journal:  Physiol Rep       Date:  2021-01

6.  Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.

Authors:  C Anwar A Chahal; David J Tester; Ahmed U Fayyaz; Keerthi Jaliparthy; Nadeem A Khan; Dongmei Lu; Mariha Khan; Aradhana Sahoo; Aiswarya Rajendran; Jennifer A Knight; Michael A Simpson; Elijah R Behr; Elson L So; Erik K St Louis; R Ross Reichard; William D Edwards; Michael J Ackerman; Virend K Somers
Journal:  J Am Heart Assoc       Date:  2021-11-24       Impact factor: 6.106

7.  Challenges in Decoding Sudden Unexpected Death in Epilepsy: The Intersection Between Heart and Brain in Epilepsy.

Authors:  Babken Asatryan
Journal:  J Am Heart Assoc       Date:  2021-11-24       Impact factor: 5.501

8.  Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

Authors:  Magy Abdelwahab; Derek Blankenship; Raphael Schiffmann
Journal:  Neurol Genet       Date:  2016-02-25

9.  Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Authors:  C Anwar A Chahal; Mohammad N Salloum; Fares Alahdab; Joseph A Gottwald; David J Tester; Lucman A Anwer; Elson L So; Mohammad Hassan Murad; Erik K St Louis; Michael J Ackerman; Virend K Somers
Journal:  J Am Heart Assoc       Date:  2019-12-21       Impact factor: 5.501

10.  Scurrying to Understand Sudden Expected Death in Epilepsy: Insights From Animal Models.

Authors:  Rui Li; Gordon F Buchanan
Journal:  Epilepsy Curr       Date:  2019-09-16       Impact factor: 7.500

  10 in total

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