Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE)

por Lamy, Florian, Valenti-Hirsch, Maria-Paola, Gauer, Lucas, Gérard, Bénédicte, Obeid, Mohamed, de Saint-Martin, Anne, Dinkelacker, Vera, Baer, Sarah, Hirsch, Edouard
Publicado 2022

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

por Doummar, Diane, Dentel, Christel, Lyautey, Romane, Metreau, Julia, Keren, Boris, Drouot, Nathalie, Malherbe, Ludivine, Bouilleret, Viviane, Courraud, Jérémie, Valenti-Hirsch, Maria Paola, Minotti, Lorella, Dozieres-Puyravel, Blandine, Bär, Séverine, Scholly, Julia, Schaefer, Elise, Nava, Caroline, Wirth, Thomas, Nasser, Hala, de Salins, Marie, de Saint Martin, Anne, Warde, Marie Thérèse Abi, Kahane, Philippe, Hirsch, Edouard, Anheim, Mathieu, Friant, Sylvie, Chelly, Jamel, Mignot, Cyril, Rudolf, Gabrielle
Publicado 2020