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Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Abstract Sudden unexpected death in epilepsy is an unpredicted condition in patients with a diagnosis of epilepsy, and autopsy does not conclusively identify cause of death. Although the pathophysiological mechanisms that underlie this entity remain unknown, the fact that epilepsy can affect cardiac function is not surprising. The genetic factors involving ion channels co-expressed in the heart and brain and other candidate genes have been previously described. In the present study, 20 epilepsy patients with personal or family history of heart rhythm disturbance/cardiac arrhythmias/sudden death were sequenced using a custom re-sequencing panel. Twenty-six relatives were genetically analysed to ascertain the family segregation in ten individuals. Four subjects revealed variants with positive genotype-phenotype segregation: four missense variants in the CDKL5, CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts, and the evaluation of the potential pathogenic role in the cardio-cerebral mechanisms requires in vivo/in vitro studies. In addition to family segregation, evaluation of the potential pathogenic roles of these variants in cardio-cerebral mechanisms by in vivo/in vitro studies should also be performed. The potential pathogenic role of variants in new candidate genes will need further studies in larger cohorts.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title plos one
Publication Year Start




PMID- 29261713
OWN - NLM
STAT- In-Process
LR  - 20171224
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 12
IP  - 12
DP  - 2017
TI  - Targeted next-generation sequencing provides novel clues for associated epilepsy 
      and cardiac conduction disorder/SUDEP.
PG  - e0189618
LID - 10.1371/journal.pone.0189618 [doi]
AB  - Sudden unexpected death in epilepsy is an unpredicted condition in patients with 
      a diagnosis of epilepsy, and autopsy does not conclusively identify cause of
      death. Although the pathophysiological mechanisms that underlie this entity
      remain unknown, the fact that epilepsy can affect cardiac function is not
      surprising. The genetic factors involving ion channels co-expressed in the heart 
      and brain and other candidate genes have been previously described. In the
      present study, 20 epilepsy patients with personal or family history of heart
      rhythm disturbance/cardiac arrhythmias/sudden death were sequenced using a custom
      re-sequencing panel. Twenty-six relatives were genetically analysed to ascertain 
      the family segregation in ten individuals. Four subjects revealed variants with
      positive genotype-phenotype segregation: four missense variants in the CDKL5,
      CNTNAP2, GRIN2A and ADGRV1 genes and one copy number variant in KCNQ1. The
      potential pathogenic role of variants in new candidate genes will need further
      studies in larger cohorts, and the evaluation of the potential pathogenic role in
      the cardio-cerebral mechanisms requires in vivo/in vitro studies. In addition to 
      family segregation, evaluation of the potential pathogenic roles of these
      variants in cardio-cerebral mechanisms by in vivo/in vitro studies should also be
      performed. The potential pathogenic role of variants in new candidate genes will 
      need further studies in larger cohorts.
FAU - Coll, Monica
AU  - Coll M
AUID- ORCID: http://orcid.org/0000-0003-1214-803X
AD  - Cardiovascular Genetics Center, IDIBGI, Dr. Trueta University Hospital, Parc
      Hospitalari Marti i Julia, Edifici, Salt (Spain).
FAU - Striano, Pasquale
AU  - Striano P
AD  - Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences,
      Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of
      Genoa, "G. Gaslini" Institute, Genova (Italy).
FAU - Ferrer-Costa, Carles
AU  - Ferrer-Costa C
AD  - Gendiag SL, Barcelona (Spain).
FAU - Campuzano, Oscar
AU  - Campuzano O
AUID- ORCID: http://orcid.org/0000-0001-5298-5276
AD  - Cardiovascular Genetics Center, IDIBGI, Dr. Trueta University Hospital, Parc
      Hospitalari Marti i Julia, Edifici, Salt (Spain).
AD  - Department of Medical Sciences, School of medicine, University of Girona, Girona 
      (Spain).
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Cardiovasculares
      (CIBERCV), Madrid (Spain).
FAU - Mates, Jesus
AU  - Mates J
AUID- ORCID: http://orcid.org/0000-0002-3822-745X
AD  - Cardiovascular Genetics Center, IDIBGI, Dr. Trueta University Hospital, Parc
      Hospitalari Marti i Julia, Edifici, Salt (Spain).
FAU - Del Olmo, Bernat
AU  - Del Olmo B
AD  - Cardiovascular Genetics Center, IDIBGI, Dr. Trueta University Hospital, Parc
      Hospitalari Marti i Julia, Edifici, Salt (Spain).
FAU - Iglesias, Anna
AU  - Iglesias A
AD  - Cardiovascular Genetics Center, IDIBGI, Dr. Trueta University Hospital, Parc
      Hospitalari Marti i Julia, Edifici, Salt (Spain).
FAU - Perez-Serra, Alexandra
AU  - Perez-Serra A
AD  - Cardiovascular Genetics Center, IDIBGI, Dr. Trueta University Hospital, Parc
      Hospitalari Marti i Julia, Edifici, Salt (Spain).
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Cardiovasculares
      (CIBERCV), Madrid (Spain).
FAU - Mademont, Irene
AU  - Mademont I
AD  - Cardiovascular Genetics Center, IDIBGI, Dr. Trueta University Hospital, Parc
      Hospitalari Marti i Julia, Edifici, Salt (Spain).
FAU - Pico, Ferran
AU  - Pico F
AD  - Cardiovascular Genetics Center, IDIBGI, Dr. Trueta University Hospital, Parc
      Hospitalari Marti i Julia, Edifici, Salt (Spain).
FAU - Oliva, Antonio
AU  - Oliva A
AD  - Institute of Public Health, Section of Legal Medicine, Catholic University, Rome 
      (Italy).
FAU - Brugada, Ramon
AU  - Brugada R
AD  - Cardiovascular Genetics Center, IDIBGI, Dr. Trueta University Hospital, Parc
      Hospitalari Marti i Julia, Edifici, Salt (Spain).
AD  - Department of Medical Sciences, School of medicine, University of Girona, Girona 
      (Spain).
AD  - Centro de Investigacion Biomedica en Red de Enfermedades Cardiovasculares
      (CIBERCV), Madrid (Spain).
AD  - Cardiac Genetics Unit, Cardiology Service, Hospital Josep Trueta, Girona (Spain).
LA  - eng
PT  - Journal Article
DEP - 20171219
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
PMC - PMC5736193
EDAT- 2017/12/21 06:00
MHDA- 2017/12/21 06:00
CRDT- 2017/12/21 06:00
PHST- 2017/09/15 00:00 [received]
PHST- 2017/11/29 00:00 [accepted]
PHST- 2017/12/21 06:00 [entrez]
PHST- 2017/12/21 06:00 [pubmed]
PHST- 2017/12/21 06:00 [medline]
AID - 10.1371/journal.pone.0189618 [doi]
AID - PONE-D-17-33335 [pii]
PST - epublish
SO  - PLoS One. 2017 Dec 19;12(12):e0189618. doi: 10.1371/journal.pone.0189618.
      eCollection 2017.