نتائج البحث - "Gianluca Casara"

1

Seizure / Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly

المؤلفون: Gianluca Casara, Francesco Benedicenti, Andrew A. Hicks, André Heimbach, Francisco S. Domingues, Peter Lackner, Anne Picard, Lucio Parmeggiani, Per Hoffmann, Claudia B. Volpato, Deborah Mascalzoni, Christine Schwienbacher, Franco Stanzial, Eva König, Peter P. Pramstaller, Chiara Cantaloni, Serena Pellegrin

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Epileptic and developmental encephalopathies, DNA Mutational Analysis, Intellectual disability, Nerve Tissue Proteins, Compound heterozygosity, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, medicine, Humans, Expressivity (genetics), Longitudinal Studies, Young adult, Exome sequencing, Family Health, business.industry, Macrocephaly, Whole exome sequencing, General Medicine, medicine.disease, Phenotype, Magnetic Resonance Imaging, Megalencephaly, Neurology, Mutation, SZT2, Neurology (clinical), mTORopathies, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f207dd0845127c31e2b6a3465469c9
https://eplus.uni-salzburg.at/doi/10.1016/j.seizure.2018.12.021

2

Pediatric epilepsy following neonatal seizures symptomatic of stroke

المؤلفون: Patrizia Accorsi, Maria Luisa Carpanelli, Cinzia Peruzzi, Laura Mastella, Massimo Mastrangelo, Annalisa Traverso, Augusta Janes, Luisa Grazian, Agnese Suppiej, Bernardo Dalla Bernardina, Gianluca Casara

مصطلحات موضوعية: Male, Risk, Pediatrics, medicine.medical_specialty, Neonatal intensive care unit, Brain Ischemia, NO, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Developmental Neuroscience, Seizures, 030225 pediatrics, Humans, Medicine, Ictal, Registries, Age of Onset, Risk factor, Child, Neonatal seizure, Stroke, Retrospective Studies, business.industry, Infant, Newborn, Brain, Infant, Electroencephalography, Retrospective cohort study, General Medicine, Prognosis, medicine.disease, Child, Preschool, Anesthesia, Pediatrics, Perinatology and Child Health, Disease Progression, Female, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0acc88cdcad9549cdc0e513080a79b3f
http://hdl.handle.net/11392/2387923

3

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

المؤلفون: Marco Angriman, Hannah Stamberger, Rikke S. Møller, Judith Phalin, Lucio Giordano, Leonardo Zoccante, Gaetano Cantalupo, Henrike O. Heyne, Monica Lodi, Ina Schanze, Steffen Syrbe, Marjolein H. Willemsen, Valérie Benoit, Pasquale Striano, Maurizio Viri, Markus Wolff, Joerg Klepper, Hartmut Baier, Corrie E. Erasmus, Marie Deprez, Patrizia Accorsi, Helene Verhelst, Sarah Weckhuysen, Marwan Shinawi, Giuseppe Capovilla, Rudy Van Coster, Almuth Caliebe, Hiltrud Muhle, Peter Uldall, Johannes R. Lemke, Katherine L. Helbig, Susan Winter, Roar Fjær, Ira Benkel-Herrenbrueck, Gerhard Kluger, Robertino Dilena, Gianluca Casara, Nina Michelberger, Carolina Courage, Peter De Jonghe, Ingo Helbig, Mauro Budetta, Andreas Tzschach, Kristel Sleegers, Andreas Merkenschlager, Oliver Maier, Katalin Sterbova, Anne Destree, Carlo Minetti, Antonino Romeo, Marina Nikanorova, Madeleine Fannemel, Martin Zenker, Keri Ramsey, Damien Lederer, Monica Traverso, Jens Schallner

المصدر: Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457 <http://dx.doi.org/10.1212/WNL.0000000000002457>
Neurology, 86, 10, pp. 954-62
Stamberger, H, Nikanorova, M, Willemsen, M H, Accorsi, P, Angriman, M, Baier, H, Benkel-Herrenbrueck, I, Benoit, V, Budetta, M, Caliebe, A, Cantalupo, G, Capovilla, G, Casara, G, Courage, C, Deprez, M, Destrée, A, Dilena, R, Erasmus, C E, Fannemel, M, Fjær, R, Giordano, L, Helbig, K L, Heyne, H O, Klepper, J, Kluger, G J, Lederer, D, Lodi, M, Maier, O, Merkenschlager, A, Michelberger, N, Minetti, C, Muhle, H, Phalin, J, Ramsey, K, Romeo, A, Schallner, J, Schanze, I, Shinawi, M, Sleegers, K, Sterbova, K, Syrbe, S, Traverso, M, Tzschach, A, Uldall, P, Van Coster, R, Verhelst, H, Viri, M, Winter, S, Wolff, M, Zenker, M, Zoccante, L, De Jonghe, P, Helbig, I, Striano, P, Lemke, J R, Møller, R S & Weckhuysen, S 2016, ' STXBP1 encephalopathy : A neurodevelopmental disorder including epilepsy ', Neurology, vol. 86, no. 10, pp. 954-962 . https://doi.org/10.1212/WNL.0000000000002457
Neurology, 86, 954-62
Neurology

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Ohtahara syndrome, Pediatrics, Movement disorders, Adolescent, Encephalopathy, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Rett syndrome, 610 Medicine & health, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Munc18 Proteins, Dravet syndrome, Medicine, Humans, Psychiatry, Preschool, Child, Brain Diseases, Child Preschool, business.industry, Medicine (all), Adolescent, Adult, Brain Diseases, Child, Child Preschool, Epilepsy, Female, Humans, Infant, Male, Middle Aged, Munc18 Proteins, Mutation, Neurodevelopmental Disorders, Young Adult, Infant, Middle Aged, medicine.disease, Epileptic spasms, 030104 developmental biology, Child, Preschool, Female, Mutation, Neurodevelopmental Disorders, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab9896adc501573a289264812f0af57
https://doi.org/10.1212/WNL.0000000000002457

4

Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy

المؤلفون: Maurizio Taglialatela, Anna Guacci, Maria Virginia Soldovieri, Paolo Ambrosino, Gianluca Casara, Marilena Vecchi, Ilaria Mosca, Francesca Rizzo, Laura Manocchio, Giovanna Marchese, Giangennaro Coppola, Teresa Rocco, Massimiliano Chetta, Alessandro Weisz

المساهمون: Rizzo, F, Ambrosino, P, Guacci, A, Chetta, M, Marchese, G, Rocco, T, Soldovieri, Mv, Manocchio, L, Mosca, I, Casara, G, Vecchi, M, Taglialatela, Maurizio, Coppola, G, Weisz, A.

مصطلحات موضوعية: 0301 basic medicine, Male, Potassium Channels, Mutant, Early-onset epileptic encephalopathies MMPSI, Mutation, Missense, Nerve Tissue Proteins, Gating, CHO Cells, Biology, Potassium Channels, Sodium-Activated, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Cricetulus, Cricetinae, medicine, Potassium Channel Blockers, Homomeric, Animals, Humans, Exome, Molecular Biology, Exome sequencing, Genetics, Whole-cell electrophysiology, KCNT1 gene, Whole exome sequencing, Infant, Cell Biology, Molecular biology, Potassium channel, 030104 developmental biology, Bepridil, Heterologous expression, Ion Channel Gating, Spasms, Infantile, 030217 neurology & neurosurgery, medicine.drug