Literature DB >> 26565596

The contribution of next generation sequencing to epilepsy genetics.

Rikke S Møller1,2, Hans A Dahl3, Ingo Helbig4,5.   

Abstract

During the last decade, next generation sequencing technologies such as targeted gene panels, whole exome sequencing and whole genome sequencing have led to an explosion of gene identifications in monogenic epilepsies including both familial epilepsies and severe epilepsies, often referred to as epileptic encephalopathies. The increased knowledge about causative genetic variants has had a major impact on diagnosis of genetic epilepsies and has already been translated into treatment recommendations for a few genes. This article provides an overview of how next generation sequencing has advanced our understanding of epilepsy genetics and discusses some of the recently discovered genes in monogenic epilepsies.

Entities:  

Keywords:  Epilepsy; de novo mutations; epileptic encephalopathies; familial epilepsies; gene panels; genetics; next generation sequencing; whole exome sequencing

Mesh:

Year:  2015        PMID: 26565596     DOI: 10.1586/14737159.2015.1113132

Source DB:  PubMed          Journal:  Expert Rev Mol Diagn        ISSN: 1473-7159            Impact factor:   5.225


  21 in total

Review 1.  The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Authors:  Davide Mei; Elena Parrini; Carla Marini; Renzo Guerrini
Journal:  Mol Diagn Ther       Date:  2017-08       Impact factor: 4.074

Review 2.  From Genetic Testing to Precision Medicine in Epilepsy.

Authors:  Pasquale Striano; Berge A Minassian
Journal:  Neurotherapeutics       Date:  2020-04       Impact factor: 7.620

3.  A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Authors:  Heather E Olson; Nolwenn Jean-Marçais; Edward Yang; Delphine Heron; Katrina Tatton-Brown; Paul A van der Zwaag; Emilia K Bijlsma; Bryan L Krock; E Backer; Erik-Jan Kamsteeg; Margje Sinnema; Margot R F Reijnders; David Bearden; Amber Begtrup; Aida Telegrafi; Roelineke J Lunsing; Lydie Burglen; Gaetan Lesca; Megan T Cho; Lacey A Smith; Beth R Sheidley; Christelle Moufawad El Achkar; Phillip L Pearl; Annapurna Poduri; Cara M Skraban; Jennifer Tarpinian; Addie I Nesbitt; Dietje E Fransen van de Putte; Claudia A L Ruivenkamp; Patrick Rump; Nicolas Chatron; Isabelle Sabatier; Julitta De Bellescize; Laurent Guibaud; David A Sweetser; Jessica L Waxler; Klaas J Wierenga; Jean Donadieu; Vinodh Narayanan; Keri M Ramsey; Caroline Nava; Jean-Baptiste Rivière; Antonio Vitobello; Frédéric Tran Mau-Them; Christophe Philippe; Ange-Line Bruel; Yannis Duffourd; Laurel Thomas; Stefan H Lelieveld; Janneke Schuurs-Hoeijmakers; Han G Brunner; Boris Keren; Julien Thevenon; Laurence Faivre; Gary Thomas; Christel Thauvin-Robinet
Journal:  Am J Hum Genet       Date:  2018-04-12       Impact factor: 11.025

4.  Two Studies, One Message: High Yield of Genetic Testing in Infants and Young Children With Severe Epilepsies.

Authors:  M Scott Perry; Annapurna Poduri
Journal:  Epilepsy Curr       Date:  2018 Jan-Feb       Impact factor: 7.500

5.  When Should Genetic Testing Be Performed in Epilepsy Patients?

Authors:  Annapurna Poduri
Journal:  Epilepsy Curr       Date:  2017 Jan-Feb       Impact factor: 7.500

Review 6.  [Epilepsy-new diagnostic tools, old drugs? : Therapeutic consequences of epilepsy genetics].

Authors:  M Tacke; B A Neubauer; L Gerstl; T Roser; J Rémi; I Borggraefe
Journal:  Nervenarzt       Date:  2017-12       Impact factor: 1.214

7.  Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.

Authors:  Robertino Dilena; Jacopo C DiFrancesco; Maria Virginia Soldovieri; Antonella Giacobbe; Paolo Ambrosino; Ilaria Mosca; Maria Albina Galli; Sophie Guez; Monica Fumagalli; Francesco Miceli; Dario Cattaneo; Francesca Darra; Elena Gennaro; Federico Zara; Pasquale Striano; Barbara Castellotti; Cinzia Gellera; Costanza Varesio; Pierangelo Veggiotti; Maurizio Taglialatela
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

Review 8.  Disorders of arousal and sleep-related hypermotor epilepsy - overview and challenges night is a battlefield of sleep and arousal promoting forces.

Authors:  Péter Halász; Anna Szűcs; Carlotta Mutti; Liborio Parrino
Journal:  Neurol Sci       Date:  2022-01-05       Impact factor: 3.307

9.  Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Authors:  Dana Marafi; Jawid M Fatih; Rauan Kaiyrzhanov; Matteo P Ferla; Charul Gijavanekar; Aljazi Al-Maraghi; Ning Liu; Emily Sites; Hessa S Alsaif; Mohammad Al-Owain; Mohamed Zakkariah; Ehab El-Anany; Ulviyya Guliyeva; Sughra Guliyeva; Colette Gaba; Ateeq Haseeb; Amal M Alhashem; Enam Danish; Vasiliki Karageorgou; Christian Beetz; Alaa A Subhi; Sureni V Mullegama; Erin Torti; Monisha Sebastin; Margo Sheck Breilyn; Susan Duberstein; Mohamed S Abdel-Hamid; Tadahiro Mitani; Haowei Du; Jill A Rosenfeld; Shalini N Jhangiani; Zeynep Coban Akdemir; Richard A Gibbs; Jenny C Taylor; Khalid A Fakhro; Jill V Hunter; Davut Pehlivan; Maha S Zaki; Joseph G Gleeson; Reza Maroofian; Henry Houlden; Jennifer E Posey; V Reid Sutton; Fowzan S Alkuraya; Sarah H Elsea; James R Lupski
Journal:  Brain       Date:  2022-04-29       Impact factor: 15.255

Review 10.  Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.

Authors:  Cigir Biray Avci; Behrouz Shademan; Masoud Nikanfar; Alireza Nourazarian
Journal:  Neuromolecular Med       Date:  2020-05-12       Impact factor: 3.843

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