Literature DB >> 26749013

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention.

Alica M Goldman1, Elijah R Behr2, Christopher Semsarian3, Richard D Bagnall3, Sanjay Sisodiya4, Paul N Cooper5,6.   

Abstract

Epidemiologic studies clearly document the public health burden of sudden unexpected death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic cardiorespiratory dysfunction, both interictally and at the time of sudden death due to epilepsy. Genetic analyses in humans and in model systems have facilitated our current molecular understanding of SUDEP. Many discoveries have been informed by progress in the field of sudden cardiac death and sudden infant death syndrome. It is becoming apparent that SUDEP genomic complexity parallels that of sudden cardiac death, and that there is a pauci1ty of analytically useful postmortem material. Because many challenges remain, future progress in SUDEP research, molecular diagnostics, and prevention rests in international, collaborative, and transdisciplinary dialogue in human and experimental translational research of sudden death. Wiley Periodicals, Inc.
© 2016 International League Against Epilepsy.

Entities:  

Keywords:  Molecular autopsy; Prevention; Sudden cardiac death; Sudden infant death syndrome; Sudden unexpected death in epilepsy (SUDEP), genetics

Mesh:

Substances:

Year:  2016        PMID: 26749013      PMCID: PMC5034873          DOI: 10.1111/epi.13232

Source DB:  PubMed          Journal:  Epilepsia        ISSN: 0013-9580            Impact factor:   5.864


  115 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.  Inaccurate electrocardiographic interpretation of long QT: the majority of physicians cannot recognize a long QT when they see one.

Authors:  Sami Viskin; Uri Rosovski; Andrew J Sands; Edmond Chen; Peter M Kistler; Jonathan M Kalman; Laura Rodriguez Chavez; Pedro Iturralde Torres; Fernando E S Cruz F; Osmar A Centurión; Akira Fujiki; Philippe Maury; Xiaomin Chen; Andrew D Krahn; Franz Roithinger; Li Zhang; G Michael Vincent; David Zeltser
Journal:  Heart Rhythm       Date:  2005-06       Impact factor: 6.343

3.  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

4.  Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia.

Authors:  Yalda Jamshidi; Ilja M Nolte; Chrysoula Dalageorgou; Dongling Zheng; Toby Johnson; Rachel Bastiaenen; Suzanne Ruddy; Daniel Talbott; Kris J Norris; Harold Snieder; Alfred L George; Vanessa Marshall; Saad Shakir; Prince J Kannankeril; Patricia B Munroe; A John Camm; Steve Jeffery; Dan M Roden; Elijah R Behr
Journal:  J Am Coll Cardiol       Date:  2012-06-06       Impact factor: 24.094

5.  Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death.

Authors:  E R Behr; A Casey; M Sheppard; M Wright; T J Bowker; M J Davies; W J McKenna; D A Wood
Journal:  Heart       Date:  2007-01-19       Impact factor: 5.994

6.  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

Review 7.  Unexplained sudden death, focussing on genetics and family phenotyping.

Authors:  Hariharan Raju; Elijah R Behr
Journal:  Curr Opin Cardiol       Date:  2013-01       Impact factor: 2.161

8.  Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals.

Authors:  Dan E Arking; M Juhani Junttila; Philippe Goyette; Adriana Huertas-Vazquez; Mark Eijgelsheim; Marieke T Blom; Christopher Newton-Cheh; Kyndaron Reinier; Carmen Teodorescu; Audrey Uy-Evanado; Naima Carter-Monroe; Kari S Kaikkonen; Marja-Leena Kortelainen; Gabrielle Boucher; Caroline Lagacé; Anna Moes; XiaoQing Zhao; Frank Kolodgie; Fernando Rivadeneira; Albert Hofman; Jacqueline C M Witteman; André G Uitterlinden; Roos F Marsman; Raha Pazoki; Abdennasser Bardai; Rudolph W Koster; Abbas Dehghan; Shih-Jen Hwang; Pallav Bhatnagar; Wendy Post; Gina Hilton; Ronald J Prineas; Man Li; Anna Köttgen; Georg Ehret; Eric Boerwinkle; Josef Coresh; W H Linda Kao; Bruce M Psaty; Gordon F Tomaselli; Nona Sotoodehnia; David S Siscovick; Greg L Burke; Eduardo Marbán; Peter M Spooner; L Adrienne Cupples; Jonathan Jui; Karen Gunson; Y Antero Kesäniemi; Arthur A M Wilde; Jean-Claude Tardif; Christopher J O'Donnell; Connie R Bezzina; Renu Virmani; Bruno H C H Stricker; Hanno L Tan; Christine M Albert; Aravinda Chakravarti; John D Rioux; Heikki V Huikuri; Sumeet S Chugh
Journal:  PLoS Genet       Date:  2011-06-30       Impact factor: 5.917

9.  Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Authors:  Sarah Weckhuysen; Vanja Ivanovic; Rik Hendrickx; Rudy Van Coster; Helle Hjalgrim; Rikke S Møller; Sabine Grønborg; An-Sofie Schoonjans; Berten Ceulemans; Sinead B Heavin; Christin Eltze; Rita Horvath; Gianluca Casara; Tiziana Pisano; Lucio Giordano; Kevin Rostasy; Edda Haberlandt; Beate Albrecht; Andrea Bevot; Ira Benkel; Steffan Syrbe; Beth Sheidley; Renzo Guerrini; Annapurna Poduri; Johannes R Lemke; Simone Mandelstam; Ingrid Scheffer; Marco Angriman; Pasquale Striano; Carla Marini; Arvid Suls; Peter De Jonghe
Journal:  Neurology       Date:  2013-10-09       Impact factor: 9.910

10.  Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Authors:  Connie R Bezzina; Julien Barc; Yuka Mizusawa; Carol Ann Remme; Jean-Baptiste Gourraud; Floriane Simonet; Arie O Verkerk; Peter J Schwartz; Lia Crotti; Federica Dagradi; Pascale Guicheney; Véronique Fressart; Antoine Leenhardt; Charles Antzelevitch; Susan Bartkowiak; Martin Borggrefe; Rainer Schimpf; Eric Schulze-Bahr; Sven Zumhagen; Elijah R Behr; Rachel Bastiaenen; Jacob Tfelt-Hansen; Morten Salling Olesen; Stefan Kääb; Britt M Beckmann; Peter Weeke; Hiroshi Watanabe; Naoto Endo; Tohru Minamino; Minoru Horie; Seiko Ohno; Kanae Hasegawa; Naomasa Makita; Akihiko Nogami; Wataru Shimizu; Takeshi Aiba; Philippe Froguel; Beverley Balkau; Olivier Lantieri; Margherita Torchio; Cornelia Wiese; David Weber; Rianne Wolswinkel; Ruben Coronel; Bas J Boukens; Stéphane Bézieau; Eric Charpentier; Stéphanie Chatel; Aurore Despres; Françoise Gros; Florence Kyndt; Simon Lecointe; Pierre Lindenbaum; Vincent Portero; Jade Violleau; Manfred Gessler; Hanno L Tan; Dan M Roden; Vincent M Christoffels; Hervé Le Marec; Arthur A Wilde; Vincent Probst; Jean-Jacques Schott; Christian Dina; Richard Redon
Journal:  Nat Genet       Date:  2013-07-21       Impact factor: 38.330

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  23 in total

1.  Can syncope cause convulsive seizures in adults?

Authors:  Dearbhla M Kelly; Daniel J Costello
Journal:  Clin Auton Res       Date:  2017-06-30       Impact factor: 4.435

2.  Summary of the 2016 Partners Against Mortality in Epilepsy (PAME) Conference.

Authors: 
Journal:  Epilepsy Curr       Date:  2016 Nov-Dec       Impact factor: 7.500

Review 3.  Reducing the Risk of Sudden Unexpected Death in Epilepsy (SUDEP).

Authors:  Lance Watkins; Rohit Shankar
Journal:  Curr Treat Options Neurol       Date:  2018-08-22       Impact factor: 3.598

4.  Optogenetic activation of 5-HT neurons in the dorsal raphe suppresses seizure-induced respiratory arrest and produces anticonvulsant effect in the DBA/1 mouse SUDEP model.

Authors:  Honghai Zhang; Haiting Zhao; Chang Zeng; Christa Van Dort; Carl L Faingold; Norman E Taylor; Ken Solt; Hua-Jun Feng
Journal:  Neurobiol Dis       Date:  2017-11-13       Impact factor: 5.996

Review 5.  Review: The past, present and future challenges in epilepsy-related and sudden deaths and biobanking.

Authors:  M Thom; M Boldrini; E Bundock; M N Sheppard; O Devinsky
Journal:  Neuropathol Appl Neurobiol       Date:  2018-02       Impact factor: 8.090

6.  Modulation of Abnormal Sodium Channel Currents in Heart and Brain: Hope for SUDEP Prevention and Seizure Reduction.

Authors:  Lindsey B Gano; Heidi L Grabenstatter
Journal:  Epilepsy Curr       Date:  2017 Sep-Oct       Impact factor: 7.500

7.  Cardiac changes in epileptic baboons with high-frequency microburst VNS therapy: A pilot study.

Authors:  Melissa A de la Garza; David Poldiak; Robert Shade; Felipe S Salinas; Alex M Papanastassiou; C Ákos Szabó
Journal:  Epilepsy Res       Date:  2019-06-12       Impact factor: 3.045

8.  Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP).

Authors:  Vikas Mishra; Bharat K Karumuri; Nicole M Gautier; Rui Liu; Timothy N Hutson; Stephanie L Vanhoof-Villalba; Ioannis Vlachos; Leonidas Iasemidis; Edward Glasscock
Journal:  Hum Mol Genet       Date:  2017-06-01       Impact factor: 6.150

9.  Cardiac biomarkers associated with epilepsy in a captive baboon pedigree.

Authors:  Charles Ákos Szabó; Margarita Akopian; David A González; Melissa A de la Garza; Melanie A Carless
Journal:  Epilepsia       Date:  2019-10-08       Impact factor: 5.864

10.  Collaborative Cross mice reveal extreme epilepsy phenotypes and genetic loci for seizure susceptibility.

Authors:  Bin Gu; John R Shorter; Lucy H Williams; Timothy A Bell; Pablo Hock; Katherine A Dalton; Yiyun Pan; Darla R Miller; Ginger D Shaw; Benjamin D Philpot; Fernando Pardo-Manuel de Villena
Journal:  Epilepsia       Date:  2020-08-27       Impact factor: 5.864

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