TITLE = {Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature},
AUTHOR = {Bar, Claire and Barcia, Giulia and Jennesson, M{\'e}lanie and Le Guyader, Gwena{\"e}l and Schneider, Amy and Mignot, Cyril and Lesca, Gaetan and Breuillard, Delphine and Montomoli, Martino and Keren, Boris and Doummar, Diane and de Villemeur, Thierry Billette and Afenjar, Alexandra and Marey, Isabelle and G{\'e}rard, Marion and Isnard, Herv{\'e} and POISSON, Alice and Dupont, Sophie and Berquin, Patrick and Meyer, Pierre and Genevieve, David and De Saint Martin, Anne and El Chehadeh, Salima and Chelly, Jamel and Guet, Agn{\`e}s and Scalais, Emmanuel and Dorison, Nathalie and Myers, Candace and Mefford, Heather and Howell, Katherine and Marini, Carla and Munnich, Arnold and Freeman, Jeremy and Nica, Anca and Terrone, Gaetano and Sekhara, Tayeb and Lebre, Anne-Sophie and Odent, Sylvie and Sadleir, Lynette and Guerrini, Renzo and Scheffer, Ingrid E. and Kabashi, Edor and Nabbout, Rima},
URL = {https://hal.archives-ouvertes.fr/hal-02302579},
JOURNAL = {Human Mutation},
PUBLISHER = {Wiley},
VOLUME = {41},
NUMBER = {1},
PAGES = {69-80},
YEAR = {2020},
DOI = {10.1002/humu.23915},
KEYWORDS = {epilepsy ; developmental and epileptic encephalopathy ; KCNB1 ; potassium channel},
PDF = {https://hal.archives-ouvertes.fr/hal-02302579/file/Bar_et_al-2019-Expanding%20the%20genetic%20and%20phenotypic%20relevance%20of%20KCNB1%20variants.pdf},
HAL_ID = {hal-02302579},
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