المؤلفون: Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, des Portes, Vincent, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido

المصدر: ISSN: 0006-8950 ; Brain, vol. 144, no. 12 (2021) p. 3635-3650.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.8, KCNT1, Developmental and epileptic encephalopathies, Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathies, Sleep-related hypermotor epilepsy

Relation: info:eu-repo/semantics/altIdentifier/pmid/34114611; info:eu-repo/grantAgreement/EC/H2020/682345/EU/NEUROBIOLOGY OF EPILEPSY GENES/EPITOR; https://archive-ouverte.unige.ch/unige:158799; unige:158799

الاتاحة: https://archive-ouverte.unige.ch/unige:158799

المؤلفون: Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, des Portes, Vincent, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., Rubboli, Guido

المصدر: 0006-8950 ; Brain

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/semantics/altIdentifier/isi/000743525200016

الاتاحة: https://hdl.handle.net/10067/1809330151162165141
https://repository.uantwerpen.be/docstore/d:irua:8033

المؤلفون: Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, des Portes, Vincent, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido

المصدر: Bonardi , C M , Heyne , H O , Fiannacca , M , Fitzgerald , M P , Gardella , E , Gunning , B , Olofsson , K , Lesca , G , Verbeek , N , Stamberger , H , Striano , P , Zara , F , Mancardi , M M , Nava , C , Syrbe , S , Buono , S , Baulac , S , Coppola , A , Weckhuysen , S , Schoonjans , A-S , Ceulemans , B , Sarret , C , Baumgartner , T , Muhle , H ....

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/7b141195-0e8c-4f7a-b753-6d62b649c94e
https://doi.org/10.1093/brain/awab219
https://findresearcher.sdu.dk/ws/files/194956605/bmjebm_2021_111743.full.pdf

المؤلفون: Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S, Balestrini, Simona, Helbig, Katherine L, Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A, Numis, Adam, Cilio, Maria-Roberta, Van Paesschen, Wim, Svendsen, Lene L, Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T, Vavoulis, Dimitris V, Knight, Samantha J L, Taylor, Jenny C, Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H, Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W, Kluger, Gerhard J, Lowenstein, Daniel H, Weckhuysen, Sarah, Pal, Deb K, Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H, Rees, Mark I, Lesca, Gaetan, Sisodiya, Sanjay M, Weber, Yvonne G, Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Neurology, Vol. 92, no.11, p. e1238-e1249 (2019)

مصطلحات موضوعية: Adolescent, Anticonvulsants, Child, Preschool, Developmental Disabilities, Drug Resistant Epilepsy, Electroencephalography, Epilepsies, Partial, Epileptic Syndromes, Female, High-Throughput Nucleotide Sequencing, Humans, Infant, Newborn, Learning Disabilities, Loss of Function Mutation, Male, Mutation, Missense, Phenotype, Seizures, Febrile, Sequence Analysis, DNA, Syntaxin 1, Young Adult

Relation: boreal:224462; http://hdl.handle.net/2078.1/224462; info:pmid/30737342; urn:ISSN:0028-3878; urn:EISSN:1526-632X

الاتاحة: http://hdl.handle.net/2078.1/224462
https://doi.org/10.1212/WNL.0000000000007089

المؤلفون: Wolking, Stefan, May, Patrick, Mei, Davide, Moller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stohr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Saenz, Margarita Sifuentes, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J. L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zoe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Weckhuysen, Sarah, Lowenstein, Daniel H., Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian

المصدر: 0028-3878 ; Neurology

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

Relation: info:eu-repo/semantics/altIdentifier/isi/000463953200018

الاتاحة: https://hdl.handle.net/10067/1577040151162165141
https://repository.uantwerpen.be/docman/irua/b04072/157704.pdf

المؤلفون: Bonardi, Claudia M., Heyne, Henrike O., Fiannacca, Martina, Fitzgerald, Mark P., Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M., Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Doroth Crossed D.sign©e, Hirsch, Edouard, Maurey, HCrossed D.sign©lène, Willems, Marjolaine, De Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A., Kroes, Hester Y., Reale, Chiara, Fenger, Christina D., Tan, Wen Hann, Dibbens, Leanne, Bearden, David R., Møller, Rikke S., Rubboli, Guido

المصدر: Bonardi , C M , Heyne , H O , Fiannacca , M , Fitzgerald , M P , Gardella , E , Gunning , B , Olofsson , K , Lesca , G , Verbeek , N , Stamberger , H , Striano , P , Zara , F , Mancardi , M M , Nava , C , Syrbe , S , Buono , S , Baulac , S , Coppola , A , Weckhuysen , S , Schoonjans , A S , Ceulemans , B , Sarret , C , Baumgartner , T , Muhle , H , Portes , V D , Toulouse , J , Nougues , M C , Rossi , M , Demarquay , G , Ville , D C D S , Hirsch , E , Maurey , HC D S , Willems , M , De Bellescize , J , Altuzarra , C D , Villeneuve , N , Bartolomei , F , Picard , F , Hornemann , F , Koolen , D A , Kroes , H Y , Reale , C , Fenger , C D , Tan , W H , Dibbens , L , Bearden , D R , Møller , R S & Rubboli , G 2021 , ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ' , Brain , vol. 144 , no. 12 , pp. 3635-3650 .

مصطلحات الفهرس: developmental and epileptic encephalopathies, epilepsy of infancy with migrating focal seizures, epileptic encephalopathies, KCNT1, sleep-related hypermotor epilepsy, article

URL: https://curis.ku.dk/portal/da/publications/kcnt1related-epilepsies-and-epileptic-encephalopathies(55694c3f-d941-4e4d-8bb1-d2dbed43de21).html
https://doi.org/10.1093/brain/awab219

المؤلفون: Genetica Klinische Genetica, Child Health, Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Gardella, Elena, Gunning, Boudewijn, Olofsson, Kern, Lesca, Gaétan, Verbeek, Nienke, Stamberger, Hannah, Striano, Pasquale, Zara, Federico, Mancardi, Maria M, Nava, Caroline, Syrbe, Steffen, Buono, Salvatore, Baulac, Stephanie, Coppola, Antonietta, Weckhuysen, Sarah, Schoonjans, An-Sofie, Ceulemans, Berten, Sarret, Catherine, Baumgartner, Tobias, Muhle, Hiltrud, Portes, Vincent des, Toulouse, Joseph, Nougues, Marie-Christine, Rossi, Massimiliano, Demarquay, Geneviève, Ville, Dorothée, Hirsch, Edouard, Maurey, Hélène, Willems, Marjolaine, de Bellescize, Julitta, Altuzarra, Cecilia Desmettre, Villeneuve, Nathalie, Bartolomei, Fabrice, Picard, Fabienne, Hornemann, Frauke, Koolen, David A, Kroes, Hester Y, Reale, Chiara, Fenger, Christina D, Tan, Wen-Hann, Dibbens, Leanne, Bearden, David R, Møller, Rikke S, Rubboli, Guido

URL: https://doi.org/10.1093/brain/awab219
http://hdl.handle.net/1874/445983
https://dspace.library.uu.nl/handle/1874/445983
http://www.scopus.com/inward/record.url?scp=85110627655&partnerID=8YFLogxK
0006-8950
Brain : a journal of neurology
144
12
3635
3650

المؤلفون: Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stoehr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Paesschen, Wim Van, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Saenz, Margarita Sifuentes, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J. L., Taylor, Jenny C., Canevini, Maria P., Darra, Francesca, Gavrilova, Ralitza, Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian

مصطلحات موضوعية: [ 60 ] All Epilepsy/Seizures, [ 91 ] All Genetics, JME, STX1B, developmental and epileptic encephalopathy

Relation: Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJ, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J (2019) Clinical spectrum of STX1B-related epileptic disorders. Neurology, online in advance of print.; http://hdl.handle.net/10255/dryad.189042

الاتاحة: http://hdl.handle.net/10255/dryad.189042
https://doi.org/10.5061/dryad.cf0hj73

المؤلفون: Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stoehr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Paesschen, Wim Van, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Saenz, Margarita Sifuentes, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J. L., Taylor, Jenny C., Canevini, Maria P., Darra, Francesca, Gavrilova, Ralitza, Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian

مصطلحات موضوعية: [ 60 ] All Epilepsy/Seizures, [ 91 ] All Genetics, JME, STX1B, developmental and epileptic encephalopathy

Relation: http://hdl.handle.net/10255/dryad.189044

الاتاحة: http://hdl.handle.net/10255/dryad.189044
https://doi.org/10.5061/dryad.cf0hj73/2