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3 results on '"Rodriguez-Sacristan Cascajo, A"'

1. Assessment of comorbidity and social anxiety in adolescents with attention deficit hyperactivity disorder: The SELFIE study

Author

Alcindor Huelva, Patricia, Artiles Pérez, Luis, Bastardas Sardan, Joan, Blanco Barca, Oscar, Casal Pena, Cristina, Casas Rivero, José, de Burgos Marín, Rafael, de Santos Moreno, Teresa, Durán Forteza, Oscar, Fernández Jaén, Alberto, Filippidis Semino, Ingrid, Fraguas Herráez, David, García Sánchez, Fidel J., García Téllez, Jorge Miguel, Gómez Sánchez, José Antonio, Gómez Vicente, Balma, Hernández Martínez, Montserrat, Huertas Patón, Abigail, Joga Elvira, María Luisa, Lara Cabeza, Francisco José, Luna Ibáñez, María Jesús, Madruga Garrido, Marcos, Málaga Dieguez, Ignacio, Matos Spohring, Claudia, Mayoral Moyano, Sacramento, Mazaira Castro, José A., Migliorelli Toppi, Ricardo Alberto, Montoliu Tamarit, Leonor, Muro Romero, José Juan, Ortega García, Enrique, Ortiz de Zárate Aguirresarube, Carmen, Pablos Sánchez, Tamara, Pavón Puey, Alfonso, Payá Gonzaléz, Beatriz, Peláez, José Carlos, Pérez Eguiagaray, Iván, Piñeiro Dieguez, Benjamín, Rodríguez Arrebola, Eloy, Rodríguez Sacristán Cascajo, Andrés, Romero Escobar, Helena, Royo Moya, Javier, Ruiz Lozano, María José, Salmerón Ruiz, María Angustias, Sánchez García del Castillo, Carmen, Sole Montserrat, Joaquín María, Vacas Moreira, Rosario, Valverde Gómez, Magdalena, Mardomingo Sanz, María Jesús, Sancho Mateo, Carlos, and Soler López, Begoña

Published
2019
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2. Evaluación de la comorbilidad y la ansiedad social en adolescentes con trastorno por déficit de atención con hiperactividad: Estudio SELFIE

Author

Alcindor Huelva, Patricia, Artiles Pérez, Luis, Bastardas Sardan, Joan, Blanco Barca, Oscar, Casal Pena, Cristina, Casas Rivero, José, de Burgos Marín, Rafael, de Santos Moreno, Teresa, Durán Forteza, Oscar, Fernández Jaén, Alberto, Filippidis Semino, Ingrid, Fraguas Herráez, David, García Sánchez, Fidel J., García Téllez, Jorge Miguel, Gómez Sánchez, José Antonio, Gómez Vicente, Balma, Hernández Martínez, Montserrat, Huertas Patón, Abigail, Joga Elvira, María Luisa, Lara Cabeza, Francisco José, Luna Ibáñez, María Jesús, Madruga Garrido, Marcos, Málaga Dieguez, Ignacio, Matos Spohring, Claudia, Mayoral Moyano, Sacramento, Mazaira Castro, José A., Migliorelli Toppi, Ricardo Alberto, Montoliu Tamarit, Leonor, Muro Romero, José Juan, Ortega García, Enrique, Ortiz de Zárate Aguirresarube, Carmen, Pablos Sánchez, Tamara, Pavón Puey, Alfonso, Payá Gonzaléz, Beatriz, Peláez, José Carlos, Pérez Eguiagaray, Iván, Piñeiro Dieguez, Benjamín, Rodríguez Arrebola, Eloy, Rodríguez Sacristán Cascajo, Andrés, Romero Escobar, Helena, Royo Moya, Javier, Ruiz Lozano, María José, Salmerón Ruiz, María Angustias, Sánchez García del Castillo, Carmen, Sole Montserrat, Joaquín María, Vacas Moreira, Rosario, Valverde Gómez., Magdalena, Mardomingo Sanz, María Jesús, Sancho Mateo, Carlos, and Soler López, Begoña

Published
2019
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3. Developmental and epilepsy spectrum ofKCNB1encephalopathy with long-term outcome

Author

Bar, C, Kuchenbuch, M, Barcia, G, Schneider, A, Jennesson, M, Le Guyader, G, Lesca, G, Mignot, C, Montomoli, M, Parrini, E, Isnard, H, Rolland, A, Keren, B, Afenjar, A, Dorison, N, Sadleir, LG, Breuillard, D, Levy, R, Rio, M, Dupont, S, Negrin, S, Danieli, A, Scalais, E, De Saint Martin, A, El Chehadeh, S, Chelly, J, Poisson, A, Lebre, A-S, Nica, A, Odent, S, Sekhara, T, Brankovic, V, Goldenberg, A, Vrielynck, P, Lederer, D, Maurey, H, Terrone, G, Besmond, C, Hubert, L, Berquin, P, Billette de Villemeur, T, Isidor, B, Freeman, JL, Mefford, HC, Myers, CT, Howell, KB, Rodriguez-Sacristan Cascajo, A, Meyer, P, Genevieve, D, Guet, A, Doummar, D, Durigneux, J, van Dooren, MF, de Wit, MCY, Gerard, M, Marey, I, Munnich, A, Guerrini, R, Scheffer, IE, Kabashi, E, Nabbout, R, Bar, C, Kuchenbuch, M, Barcia, G, Schneider, A, Jennesson, M, Le Guyader, G, Lesca, G, Mignot, C, Montomoli, M, Parrini, E, Isnard, H, Rolland, A, Keren, B, Afenjar, A, Dorison, N, Sadleir, LG, Breuillard, D, Levy, R, Rio, M, Dupont, S, Negrin, S, Danieli, A, Scalais, E, De Saint Martin, A, El Chehadeh, S, Chelly, J, Poisson, A, Lebre, A-S, Nica, A, Odent, S, Sekhara, T, Brankovic, V, Goldenberg, A, Vrielynck, P, Lederer, D, Maurey, H, Terrone, G, Besmond, C, Hubert, L, Berquin, P, Billette de Villemeur, T, Isidor, B, Freeman, JL, Mefford, HC, Myers, CT, Howell, KB, Rodriguez-Sacristan Cascajo, A, Meyer, P, Genevieve, D, Guet, A, Doummar, D, Durigneux, J, van Dooren, MF, de Wit, MCY, Gerard, M, Marey, I, Munnich, A, Guerrini, R, Scheffer, IE, Kabashi, E, and Nabbout, R

Abstract

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 epileptic encephalopathy (DEE) or developmental encephalopathy (DE). In addition, we reviewed published cases and provided the long-term outcome in patients older than 12 years from our series and from literature. RESULTS: Our series included 36 patients (21 males, median age = 10 years, range = 1.6 months-34 years). Twenty patients (56%) had DEE with infantile onset seizures (seizure onset = 10 months, range = 10 days-3.5 years), whereas 16 (33%) had DE with late onset epilepsy in 10 (seizure onset = 5 years, range = 18 months-25 years) and without epilepsy in six. Cognitive impairment was more severe in individuals with DEE compared to those with DE. Analysis of 73 individuals with KCNB1 pathogenic variants (36 from our series and 37 published individuals in nine reports) showed developmental delay in all with severe to profound intellectual disability in 67% (n = 41/61) and autistic features in 56% (n = 32/57). Long-term outcome in 22 individuals older than 12 years (14 in our series and eight published individuals) showed poor cognitive, psychiatric, and behavioral outcome. Epilepsy course was variable. Missense variants were associated with more frequent and more severe epilepsy compared to truncating variants. SIGNIFICANCE: Our study describes the phenotypic spectrum of KCNB1 encephalopathy, which varies from severe DEE to DE with or without epilepsy. Although cognitive impairment is worse in patients with DEE, long-term outcome is poor for most and missense variants are associated with more severe epilepsy outcome. Further understanding of disease mechani

Published
2020

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