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GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?
Benova, Barbora; Sanders, Maurits W C B; Uhrova-Meszarosova, Anna; Belohlavkova, Anezka; Hermanovska, Barbora; Novak, Vilem; Stanek, David; Vlckova, Marketa; Zamecnik, Josef; Aronica, Eleonora; Braun, Kees P J; Koeleman, Bobby P C; Jansen, Floor E; Krsek, Pavel.
Afiliación
  • Benova B; Department of Paediatric Neurology, Motol Epilepsy Center, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic; Neurogenetics Laboratory of the Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol U
  • Sanders MWCB; Department of Child Neurology, Brain Center University Medical Center Utrecht, the Netherlands. Electronic address: M.W.C.B.Sanders-5@umcutrecht.nl.
  • Uhrova-Meszarosova A; Department of Paediatric Neurology, Motol Epilepsy Center, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic; Neurogenetics Laboratory of the Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol U
  • Belohlavkova A; Department of Paediatric Neurology, Motol Epilepsy Center, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic. Electronic address: anezka.belohlavkova@fnmotol.cz.
  • Hermanovska B; Department of Paediatric Neurology, Motol Epilepsy Center, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic. Electronic address: barbora.hermanovska@fnmotol.cz.
  • Novak V; Department of Paediatric Neurology, Ostrava Faculty Hospital, 17. Listopadu 1790, 708 00, Ostrava-Poruba, Czech Republic. Electronic address: vilem.novak@fno.cz.
  • Stanek D; Neurogenetics Laboratory of the Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, Prague, 15006, Czech Republic. Electronic address: david.stanek@lfmotol.cuni.cz.
  • Vlckova M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic. Electronic address: marketa.vlckova@fnmotol.cz.
  • Zamecnik J; Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic. Electronic address: josef.zamecnik@lfmotol.cuni.cz.
  • Aronica E; Amsterdam UMC, University of Amsterdam, Department of (Neuro)Pathology, Amsterdam, Meibergdreef 9, 1105, AZ Amsterdam, the Netherlands; Stichting Epilepsie Instellingen Nederland (SEIN), Achterweg 2, 2103, SW, Heemstede, the Netherlands. Electronic address: e.aronica@amsterdamumc.nl.
  • Braun KPJ; Department of Child Neurology, Brain Center University Medical Center Utrecht, the Netherlands. Electronic address: K.Braun@umcutrecht.nl.
  • Koeleman BPC; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: B.P.C.Koeleman@umcutrecht.nl.
  • Jansen FE; Department of Child Neurology, Brain Center University Medical Center Utrecht, the Netherlands. Electronic address: f.e.jansen@umcutrecht.nl.
  • Krsek P; Department of Paediatric Neurology, Motol Epilepsy Center, 2nd Faculty of Medicine, Charles University and Motol University Hospital, V Uvalu 84, 15006, Prague, Czech Republic. Electronic address: pavel.krsek@fnmotol.cz.
Eur J Paediatr Neurol ; 30: 88-96, 2021 Jan.
Article en En | MEDLINE | ID: mdl-33461085

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Activadoras de GTPasa / Proteínas Supresoras de Tumor / Malformaciones del Desarrollo Cortical Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Activadoras de GTPasa / Proteínas Supresoras de Tumor / Malformaciones del Desarrollo Cortical Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2021 Tipo del documento: Article