1. A knock‐in mouse model for KCNQ2‐related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment. (2nd April 2020) Authors: Milh, Mathieu; Roubertoux, Pierre; Biba, Najoua; Chavany, Julie; Spiga Ghata, Adeline; Fulachier, Camille; Collins, Stephan Christopher; Wagner, Christel; Roux, Jean‐Christophe; Yalcin, Binnaz; Félix, Marie‐Solenne; Molinari, Florence; Lenck‐Santini, Pierre‐Pascal; Villard, Laurent Journal: Epilepsia Issue: Volume 61:issue 5(2020) Page Start: 868 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression‐burst enhances Kv7/M channel activity. (31st March 2016) Authors: Devaux, Jérôme; Abidi, Affef; Roubertie, Agathe; Molinari, Florence; Becq, Hélène; Lacoste, Caroline; Villard, Laurent; Milh, Mathieu; Aniksztejn, Laurent Journal: Epilepsia Issue: Volume 57:issue 5(2016) Page Start: e87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A possible link between KCNQ2‐ and STXBP1‐related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin‐1A on M current. (25th October 2017) Authors: Devaux, Jérôme; Dhifallah, Sandra; De Maria, Michela; Stuart‐Lopez, Geoffrey; Becq, Hélène; Milh, Mathieu; Molinari, Florence; Aniksztejn, Laurent Journal: Epilepsia Issue: Volume 58:issue 12(2017) Page Start: 2073 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Acute‐onset chorea, dystonia, and cardiac fibroelastoma in a child: A paraneoplastic association?. Issue 2 (12th December 2012) Authors: Bohrer, Sandrine; De, Grégoire; Carneiro, Maryline; Fernandez, Carla; Garbi, Didier; Mace, Loïc; Milh, Mathieu; Guillaumont, Sophie; Echenne, Bernard; Honnorat, Jérôme; Roubertie, Agathe Journal: Movement disorders Issue: Volume 28:Issue 2(2013) Page Start: 250 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Anti–tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot study. (22nd April 2016) Authors: Lagarde, Stanislas; Villeneuve, Nathalie; Trébuchon, Agnès; Kaphan, Elsa; Lepine, Anne; McGonigal, Aileen; Roubertie, Agathe; Barthez, Marie‐Anne J.; Trommsdorff, Valérie; Lefranc, Jérémie; Wehbi, Samer; des Portes, Vincent; Laguitton, Virginie; Quartier, Pierre; Scavarda, Didier; Giusiano, Berna... Journal: Epilepsia Issue: Volume 57:issue 6(2016) Page Start: 956 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Children often present with infantile spasms after herpetic encephalitis. Issue 9 (1st July 2013) Authors: Aznar Laín, Gemma; Dellatolas, Georges; Eisermann, Monika; Boddaert, Nathalie; Chiron, Catherine; Bulteau, Christine; Monteiro, José P.; An, Isabelle; Pédespan, Jean‐Michel; Cancès, Claude; Peudenier, Sylvianne; Barthez, Marie‐Anne; Milh, Mathieu; Dorfmuller, Georges; Héron, Bénédicte; Nabbout, R... Journal: Epilepsia Issue: Volume 54:Issue 9(2013:Sep.) Page Start: 1571 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. (21st March 2023) Authors: Carapancea, Evelina; Cornet, Marie-Coralie; Milh, Mathieu; De Cosmo, Lucrezia; Huang, Eric J.; Granata, Tiziana; Striano, Pasquale; Ceulemans, Berten; Stein, Anja; Morris-Rosendahl, Deborah; Conti, Greta; Mitra, Nipa; Raymond, F. Lucy; Rowitch, David H.; Solazzi, Roberta; Vercellino, Fabiana; De ... Journal: Neurology Issue: Volume 100:Number 12(2023) Page Start: e1234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures. (26th April 2019) Authors: Denis, Julien; Villeneuve, Nathalie; Cacciagli, Pierre; Mignon‐Ravix, Cecile; Lacoste, Caroline; Lefranc, Jeremie; Napuri, Sylvia; Damaj, Lena; Villega, Frederic; Pedespan, Jean‐Michel; Moutton, Sebastien; Mignot, Cyril; Doummar, Diane; Lion‐François, Laurence; Gataullina, Svetlana; Dulac, Olivie... Journal: Epilepsia Issue: Volume 60:issue 5(2019) Page Start: 845 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Defining the phenotype of FHF1 developmental and epileptic encephalopathy. (9th July 2020) Authors: Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathi... Journal: Epilepsia Issue: Volume 61:issue 7(2020) Page Start: e71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia. Issue 2 (26th July 2009) Authors: Mignon-Ravix, Cécile; Cacciagli, Pierre; El-Waly, Bilal; Moncla, Anne; Milh, Mathieu; Girard, Nadine; Chabrol, Brigitte; Philip, Nicole; Villard, Laurent Journal: Journal of medical genetics Issue: Volume 47:Issue 2(2010) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗