Article
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia - 1 Nov 2020
Bar Claire, Kuchenbuch Mathieu, Barcia Giulia, Schneider Amy, Jennesson Mélanie, Le Guyader Gwenaël, Lesca Gaetan, Mignot Cyril, Montomoli Martino, Parrini Elena, Isnard Hervé, Rolland Anne, Keren Boris, Afenjar Alexandra, Dorison Nathalie, Sadleir Lynette G, Breuillard Delphine, Levy Raphael, Rio Marlène, Dupont Sophie, Negrin Susanna, Danieli Alberto, Scalais Emmanuel, De Saint Martin Anne, El Chehadeh Salima, Chelly Jamel, Poisson Alice, Lebre Anne-Sophie, Nica Anca, Odent Sylvie, Sekhara Tayeb, Brankovic Vesna, Goldenberg Alice, Vrielynck Pascal, Lederer Damien, Maurey Hélène, Terrone Gaetano, Besmond Claude, Hubert Laurence, Berquin Patrick, Billette de Villemeur Thierry, Isidor Bertrand, Freeman Jeremy L, Mefford Heather C, Myers Candace T, Howell Katherine B, Rodríguez-Sacristán Cascajo Andrés, Meyer Pierre, Genevieve David, Guët Agnès, Doummar Diane, Durigneux Julien, van Dooren Marieke F, de Wit Marie Claire Y, Gerard Marion, Marey Isabelle, Munnich Arnold, Guerrini Renzo, Scheffer Ingrid E, Kabashi Edor, Nabbout Rima
Abstract excerpt
OBJECTIVE: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy. METHODS: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association "KCNB1 France." Patients were classified as having developmental and...
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