1. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. Issue 2 (24th December 2013) Authors: Dimassi, Sarra; Labalme, Audrey; Lesca, Gaetan; Rudolf, Gabrielle; Bruneau, Nadine; Hirsch, Edouard; Arzimanoglou, Alexis; Motte, Jacques; de, Anne; Boutry‐Kryza, Nadia; Cloarec, Robin; Benitto, Afaf; Ameil, Agnès; Edery, Patrick; Ryvlin, Philippe; De Bellescize, Julitta; Szepetowski, Pierre; San... Journal: Epilepsia Issue: Volume 55:Issue 2(2014:Feb.) Page Start: 370 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+ current. Issue 9 (12th June 2013) Authors: Lauxmann, Stephan; Boutry‐Kryza, Nadia; Rivier, Clotilde; Mueller, Stephan; Hedrich, Ulrike B. S.; Maljevic, Snezana; Szepetowski, Pierre; Lerche, Holger; Lesca, Gaetan Journal: Epilepsia Issue: Volume 54:Issue 9(2013:Sep.) Page Start: e117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Idiopathic focal epilepsies: the "lost tribe"th. Issue 3 (9th September 2016) Authors: Pal, Deb K.; Ferrie, Colin; Addis, Laura; Akiyama, Tomoyuki; Capovilla, Giuseppe; Caraballo, Roberto; de Saint‐Martin, Anne; Fejerman, Natalio; Guerrini, Renzo; Hamandi, Khalid; Helbig, Ingo; Ioannides, Andreas A.; Kobayashi, Katsuhiro; Lal, Dennis; Lesca, Gaetan; Muhle, Hiltrud; Neubauer, Bernd ... Journal: Epileptic disorders Issue: Volume 18:Issue 3(2016:Sep.) Page Start: 252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Impaired vocal communication, sleep‐related discharges, and transient alteration of slow‐wave sleep in developing mice lacking the GluN2A subunit of N‐methyl‐d‐aspartate receptors. (3rd June 2019) Authors: Salmi, Manal; Del Gallo, Federico; Minlebaev, Marat; Zakharov, Andrey; Pauly, Vanessa; Perron, Pauline; Pons‐Bennaceur, Alexandre; Corby‐Pellegrino, Séverine; Aniksztejn, Laurent; Lenck‐Santini, Pierre‐Pascal; Epsztein, Jérôme; Khazipov, Rustem; Burnashev, Nail; Bertini, Giuseppe; Szepetowski, Pi... Journal: Epilepsia Issue: Volume 60:issue 7(2019) Page Start: 1424 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. (7th February 2023) Authors: Happ, Hannah C.; Sadleir, Lynette G.; Zemel, Matthew; de Valles-Ibáñez, Guillem; Hildebrand, Michael S.; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Møller, Rikke S.; Fenger, Christina D.; Klint Nielsen, J... Journal: Neurology Issue: Volume 100:Number 6(2023) Page Start: e603 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. NMDA receptor subunit mutations in neurodevelopmental disorders. (February 2015) Authors: Burnashev, Nail; Szepetowski, Pierre Journal: Current opinion in pharmacology Issue: Volume 20(2015) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. NMDA receptors : methods and protocols /: methods and protocols. (2017) Editors: Burnashev, Nail; Szepetowski, Pierre Record Type: Book Extent: 1 online resource (xiii, 314 pages), illustrations (some color) View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Severe phenotypic spectrum of biallelic mutations in PRRT2 gene. Issue 7 (16th January 2015) Authors: Delcourt, Marion; Riant, Florence; Mancini, Josette; Milh, Mathieu; Navarro, Vincent; Roze, Emmanuel; Humbertclaude, Véronique; Korff, Christian; Des Portes, Vincent; Szepetowski, Pierre; Doummar, Diane; Echenne, Bernard; Quintin, Samuel; Leboucq, Nicolas; Singh Amrathlal, Rabbind; Rochette, Jacq... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 86:Issue 7(2015) Page Start: 782 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language‐related NMDA receptor subunit gene Grin2a. (26th August 2018) Authors: Salmi, Manal; Bolbos, Radu; Bauer, Sylvian; Minlebaev, Marat; Burnashev, Nail; Szepetowski, Pierre Journal: Epilepsia Issue: Volume 59:issue 10(2018) Page Start: 1919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Update on the genetics of the epilepsy‐aphasia spectrum and role of GRIN2A mutations. (18th May 2020) Authors: Lesca, Gaetan; M⊘ller, Rikke S.; Rudolf, Gabrielle; Hirsch, Edouard; Hjalgrim, Helle; Szepetowski, Pierre Journal: Epileptic disorders Issue: Volume 21:(2019)supplement Page Start: S41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗