Coloma Tiron1, Coloma Tiron de Llano, Oscar Campuzano2, Alexandra Pérez-Serra3, Irene Mademont3, Monica Coll3, Catarina Allegue3, Anna Iglesias3, Sara Partemi4, Pasquale Striano5, Antonio Oliva4, Ramon Brugada6. 1. Cardiology Service, Hospital Josep Trueta, Girona, Spain; Cardiology Department, Hospital of Palamós, Palamós, Spain. 2. Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain. 3. Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain. 4. Institute of Public Health Section of Legal Medicine, School of Medicine, Catholic University, Rome, Italy. 5. Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, "G. Gaslini" Institute, Genova, Italy. 6. Cardiology Service, Hospital Josep Trueta, Girona, Spain; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica de Girona-IDIBGI, Unversitat de Girona, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain. Electronic address: ramon@brugada.org.
Abstract
PURPOSE: Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family. METHODS: We assessed a family showing epilepsy concomitant with LQTS. Index case showed prolonged QT interval. His father suffers of LQT and epilepsy. We performed a direct sequencing analysis of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A genes. RESULTS: We identified a non-synonymous heterozygous missense pathogenic mutation (p.L273F) in exon 6 of the KCNQ1 gene. All clinically affected relatives carried the same mutation. CONCLUSION: We report, for a first time, a KCNQ1 mutation in a family suffering of both phenotypes, suggesting that KCNQ1 genetic variations may confer susceptibility for recurrent seizure activity increasing the risk or lead to sudden death.
PURPOSE: Ion channels are expressed both in the heart and in the brain, being advocated as responsible for sudden unexpected death in epilepsy but few pathogenic mutations have been identified. We aim to identify a novel gen associated with channelopathies and epilepsy in a family. METHODS: We assessed a family showing epilepsy concomitant with LQTS. Index case showed prolonged QT interval. His father suffers of LQT and epilepsy. We performed a direct sequencing analysis of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A genes. RESULTS: We identified a non-synonymous heterozygous missense pathogenic mutation (p.L273F) in exon 6 of the KCNQ1 gene. All clinically affected relatives carried the same mutation. CONCLUSION: We report, for a first time, a KCNQ1 mutation in a family suffering of both phenotypes, suggesting that KCNQ1 genetic variations may confer susceptibility for recurrent seizure activity increasing the risk or lead to sudden death.
Authors: Lorenzo Gigli; Giovanni Bertero; Monica Coll Vidal; Anna Iglesias; Oscar Campuzano; Pasquale Striano; Antonio Oliva; Ramon Brugada Journal: J Neurol Date: 2017-02-20 Impact factor: 4.849
Authors: H A Bruce; P Kochunov; S A Paciga; C L Hyde; X Chen; Z Xie; B Zhang; H S Xi; P O'Donnell; C Whelan; C R Schubert; A Bellon; S A Ament; D K Shukla; X Du; L M Rowland; H O'Neill; L E Hong Journal: Genes Brain Behav Date: 2017-03-13 Impact factor: 3.449
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
Authors: Monica Coll; Catarina Allegue; Sara Partemi; Jesus Mates; Bernat Del Olmo; Oscar Campuzano; Vincenzo Pascali; Anna Iglesias; Pasquale Striano; Antonio Oliva; Ramon Brugada Journal: Int J Legal Med Date: 2015-09-30 Impact factor: 2.686
Authors: Fatima Jaffer; Andreja Avbersek; Rosaria Vavassori; Carmen Fons; Jaume Campistol; Michela Stagnaro; Elisa De Grandis; Edvige Veneselli; Hendrik Rosewich; Melania Gianotta; Claudio Zucca; Francesca Ragona; Tiziana Granata; Nardo Nardocci; Mohamed Mikati; Ashley R Helseth; Cyrus Boelman; Berge A Minassian; Sophia Johns; Sarah I Garry; Ingrid E Scheffer; Isabelle Gourfinkel-An; Ines Carrilho; Sarah E Aylett; Matthew Parton; Michael G Hanna; Henry Houlden; Brian Neville; Manju A Kurian; Jan Novy; Josemir W Sander; Pier D Lambiase; Elijah R Behr; Tsveta Schyns; Alexis Arzimanoglou; J Helen Cross; Juan P Kaski; Sanjay M Sisodiya Journal: Brain Date: 2015-08-21 Impact factor: 13.501