Journal ArticleDOI
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R. Lemke,Dennis Lal,Eva M. Reinthaler,Isabelle Steiner,Michael Nothnagel,Michael Alber,Kirsten Geider,Bodo Laube,Michael Schwake,Katrin Finsterwalder,Andre Franke,Markus Schilhabel,Johanna A. Jähn,Hiltrud Muhle,Rainer Boor,Wim Van Paesschen,Roberto Caraballo,Natalio Fejerman,Sarah Weckhuysen,Peter De Jonghe,Jan Larsen,Rikke S. Møller,Helle Hjalgrim,Laura Addis,Shan Tang,Elaine Hughes,Deb K. Pal,Kadi Veri,Ulvi Vaher,Tiina Talvik,Petia Dimova,Rosa Guerrero López,José M. Serratosa,Tarja Linnankivi,Anna-Elina Lehesjoki,Susanne Ruf,Markus Wolff,Sarah E. Buerki,Gabriele Wohlrab,Judith Kroell,Alexandre N. Datta,Barbara Fiedler,Gerhard Kurlemann,Gerhard Kluger,Andreas Hahn,D Edda Haberlandt,Christina Kutzer,Jürgen Sperner,Felicitas Becker,Yvonne G. Weber,Martha Feucht,Hannelore Steinböck,Birgit Neophythou,Gabriel M. Ronen,Ursula Gruber-Sedlmayr,Julia Geldner,Robert J. Harvey,Per Hoffmann,Per Hoffmann,Stefan Herms,Stefan Herms,Janine Altmüller,Mohammad R. Toliat,Holger Thiele,Peter Nürnberg,Christian Wilhelm,Ulrich Stephani,Ingo Helbig,Holger Lerche,Fritz Zimprich,Bernd A. Neubauer,Saskia Biskup,Saskia Biskup,Sarah von Spiczak +73 more
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TLDR
Results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.Abstract:
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS). The genetic basis is largely unknown. We detected new heterozygous mutations in GRIN2A in 27 of 359 affected individuals from 2 independent cohorts with IFE (7.5%; P = 4.83 × 10(-18), Fisher's exact test). Mutations occurred significantly more frequently in the more severe phenotypes, with mutation detection rates ranging from 12/245 (4.9%) in individuals with BECTS to 9/51 (17.6%) in individuals with CSWS (P = 0.009, Cochran-Armitage test for trend). In addition, exon-disrupting microdeletions were found in 3 of 286 individuals (1.0%; P = 0.004, Fisher's exact test). These results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.read more
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Journal ArticleDOI
Genomic studies in epilepsy
Diana E. Guzmán-Jiménez,Diana E. Guzmán-Jiménez,Erika L. Flores-Ramírez,Ana Luisa Velasco-Monroy +3 more
TL;DR: The aim of this work is to cite evidence about some of the molecular biology techniques in order to support and encourage investment in neurogenomical research; as a necessary tool in the study of epilepsy.
Book ChapterDOI
New technologies in molecular genetics: the impact on epilepsy research
TL;DR: This chapter aims to provide an overview of the achievements of these new technologies and the challenges that the field is currently facing.
Journal ArticleDOI
Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years.
Celina von Stülpnagel,Celina von Stülpnagel,Andreas van Baalen,Ingo Borggraefe,Kirsten Eschermann,Till Hartlieb,Lorenz Kiwull,Lorenz Kiwull,Milka Pringsheim,Markus Wolff,Manfred Kudernatsch,Gert Wiegand,Pasquale Striano,Pasquale Striano,Gerhard Kluger +14 more
TL;DR: The Network for Therapy in Rare Epilepsies (NETRE) as mentioned in this paper enables clinicians to quickly exchange information on therapeutic experiences in rare diseases with colleagues at an international level, which is helpful for both parents and clinicians/scientist.
Dissertation
Ionotropic glutamate receptor dysfunction in pediatric neurodevelopment
TL;DR: In this article, the NMDA Rezeptor is analyzed in pathologischen Zusammenhangen, aus Patienten with verschiedenen Epilepsie-Syndromen.
Journal ArticleDOI
Medikamentöse Therapie fokaler Anfälle bei Kindern
TL;DR: The antiepileptic drug therapy of structural and MRI-negative focal epilepsy do not differ and various self-limiting focal epilepsies in childhood are treated differently and typically with a shorter duration of medication.
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