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	1.	Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. [electronic resource] by Bahi-Buisson, Nadia Girard, Benoit Gautier, Agnes Nectoux, Juliette Fichou, Yann Saillour, Yoann Poirier, Karine Chelly, Jamel Bienvenu, Thierry Producer: 20100323 In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 153B Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability. [electronic resource] by Vergult, Sarah Dheedene, Annelies Meurs, Alfred Faes, Fran Isidor, Bertrand Janssens, Sandra Gautier, Agnès Le Caignec, Cédric Menten, Björn Producer: 20160106 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Ring 14 chromosome presenting as early-onset isolated partial epilepsy. [electronic resource] by Ville, Dorothée DE Bellescize, Julitta Nguyen, Marie Ange Testard, Hervé Gautier, Agnès Perrier, Julie Till, Marianne DES Portes, Vincent Producer: 20091022 In: Developmental medicine and child neurology vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Excellent response to a ketogenic diet in a patient with alternating hemiplegia of childhood. [electronic resource] by Roubergue, Anne Philibert, Bertrand Gautier, Agnès Kuster, Alice Markowicz, Karine Billette de Villemeur, Thierry Vuillaumier-Barrot, Sandrine Nicole, Sophie Roze, Emmanuel Doummar, Diane Producer: 20141219 In: JIMD reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation. [electronic resource] by Chemaly, Nicole Losito, Emma Pinard, Jean Marc Gautier, Agnès Villeneuve, Nathalie Arbues, Anne Sophie An, Isabelle Desguerre, Isabelle Dulac, Olivier Chiron, Catherine Kaminska, Anna Nabbout, Rima Producer: 20190401 In: Epileptic disorders : international epilepsy journal with videotape vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. [electronic resource] by Depienne, Christel Trouillard, Oriane Gourfinkel-An, Isabelle Saint-Martin, Cécile Bouteiller, Delphine Graber, Denis Barthez-Carpentier, Marie-Anne Gautier, Agnès Villeneuve, Nathalie Dravet, Charlotte Livet, Marie-Odile Rivier-Ringenbach, Clothilde Adam, Claude Dupont, Sophie Baulac, Stéphanie Héron, Delphine Nabbout, Rima Leguern, Eric Producer: 20100915 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. [electronic resource] by Depienne, Christel Bouteiller, Delphine Keren, Boris Cheuret, Emmanuel Poirier, Karine Trouillard, Oriane Benyahia, Baya Quelin, Chloé Carpentier, Wassila Julia, Sophie Afenjar, Alexandra Gautier, Agnès Rivier, François Meyer, Sophie Berquin, Patrick Hélias, Marie Py, Isabelle Rivera, Serge Bahi-Buisson, Nadia Gourfinkel-An, Isabelle Cazeneuve, Cécile Ruberg, Merle Brice, Alexis Nabbout, Rima Leguern, Eric Producer: 20090323 In: PLoS genetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. [electronic resource] by Depienne, Christel Trouillard, Oriane Bouteiller, Delphine Gourfinkel-An, Isabelle Poirier, Karine Rivier, François Berquin, Patrick Nabbout, Rima Chaigne, Denys Steschenko, Dominique Gautier, Agnès Hoffman-Zacharska, Dorota Lannuzel, Annie Lackmy-Port-Lis, Marilyn Maurey, Hélène Dusser, Anne Bru, Marie Gilbert-Dussardier, Brigitte Roubertie, Agathe Kaminska, Anna Whalen, Sandra Mignot, Cyril Baulac, Stéphanie Lesca, Gaetan Arzimanoglou, Alexis LeGuern, Eric Producer: 20111219 In: Human mutation vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. [electronic resource] by Di Meglio, Chloé Lesca, Gaetan Villeneuve, Nathalie Lacoste, Caroline Abidi, Affef Cacciagli, Pierre Altuzarra, Cécilia Roubertie, Agathe Afenjar, Alexandra Renaldo-Robin, Florence Isidor, Bertrand Gautier, Agnes Husson, Marie Cances, Claude Metreau, Julia Laroche, Cécile Chouchane, Mondher Ville, Dorothée Marignier, Stéphanie Rougeot, Christelle Lebrun, Marine de Saint Martin, Anne Perez, Alexandra Riquet, Audrey Badens, Catherine Missirian, Chantal Philip, Nicole Chabrol, Brigitte Villard, Laurent Milh, Mathieu Producer: 20160408 In: Epilepsia vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France. [electronic resource] by Chipaux, Mathilde Szurhaj, William Vercueil, Laurent Milh, Mathieu Villeneuve, Nathalie Cances, Claude Auvin, Stéphane Chassagnon, Serge Napuri, Sylvia Allaire, Catherine Derambure, Philippe Marchal, Cécile Caubel, Isabelle Ricard-Mousnier, Brigitte N'Guyen The Tich, Sylvie Pinard, Jean-Marc Bahi-Buisson, Nadia de Baracé, Claire Kahane, Philippe Gautier, Agnès Hamelin, Sophie Coste-Zeitoun, Delphine Rosenberg, Sarah-Dominique Clerson, Pierre Nabbout, Rima Kuchenbuch, Mathieu Picot, Marie-Christine Kaminska, Anna Producer: 20170531 In: Epilepsia vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)