المؤلفون: Hidetoshi MURATA, Ichiro TAKUMI, Kimiyuki KAWAGUCHI, Kyoko TATEBAYASHI, Takashi MATSUMORI

المصدر: NMC Case Report Journal. 2023, 10:321

المؤلفون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Morano, Alessandra, Riva, Antonella, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo

المساهمون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Morano, Alessandra, Riva, Antonella, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexi, Striano, Pasquale, Di Bonaventura, Carlo

مصطلحات موضوعية: Jeavons syndrome, catamenial seizure, drug resistance, genetic generalized epilepsy (GGE), photosensitivity

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37021337; info:eu-repo/semantics/altIdentifier/wos/WOS:000974144800001; journal:EPILEPSIA; https://hdl.handle.net/11573/1679179Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153755637

الإتاحة: https://doi.org/10.1111/epi.17609Test
https://hdl.handle.net/11573/1679179Test

المؤلفون: Kate Stanley, Gianpiero Cavalleri, Norman Delanty

مصطلحات موضوعية: Genetics, Neurogenetics, Central nervous system, Neurology and neuromuscular diseases, Paediatrics, Jeavons syndrome, genomics, microphenotype, pediatric status epilepticus, genomic architecture, phenotypic data, genomic risk factors, International League Against Epilepsy classification system, clinical phenotypes, Landau–Kleffner patients (GRIN2A)

العلاقة: 10779/rcsi.24512863.v1; https://figshare.com/articles/journal_contribution/Genomic_analysis_of_microphenotypes_in_epilepsy/24512863Test

الإتاحة: https://figshare.com/articles/journal_contribution/Genomic_analysis_of_microphenotypes_in_epilepsy/24512863Test

المؤلفون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto H, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, Meletti Stefano

المساهمون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto H, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexi, Striano, Pasquale, Di Bonaventura, Carlo, Meletti, Stefano

مصطلحات موضوعية: Jeavons Syndrome, classification, eyelid myoclonia with absences (EMA), idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36307934; info:eu-repo/semantics/altIdentifier/wos/WOS:000881948000001; volume:64; issue:1; firstpage:196; lastpage:207; journal:EPILEPSIA; https://hdl.handle.net/11380/1294465Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142092302

الإتاحة: https://doi.org/10.1111/epi.17450Test
https://hdl.handle.net/11380/1294465Test

المؤلفون: Irelli, Emanuele Cerulli, Cocchi, Enrico, Ramantani, Georgia, Morano, Alessandra, Riva, Antonella, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Trenite, Dorothee Kasteleijn-Nolst, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo, EEM study group

المصدر: Epilepsia , 64 (6) e105-e111. (2023)

مصطلحات موضوعية: Jeavons syndrome, catamenial seizures, drug resistance, genetic generalized epilepsy (GGE), photosensitivity

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10168109/1/Sex%20based%20electroclinical%20differences%20and%20prognostic%20factors%20in%20epilepsy%20with%20eyelid%20myoclonia.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10168109Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10168109/1/Sex%20based%20electroclinical%20differences%20and%20prognostic%20factors%20in%20epilepsy%20with%20eyelid%20myoclonia.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10168109Test/

المؤلفون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto H, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo

المساهمون: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Riva, Antonella, Caraballo, Roberto H, Morano, Alessandra, Giuliano, Loretta, Yilmaz, Tülay, Panagiotakaki, Eleni, Operto, Francesca F, Giraldez, Beatriz Gonzalez, Balestrini, Simona, Silvennoinen, Katri, Casciato, Sara, Comajuan, Marion, Fortunato, Francesco, Giallonardo, Anna T, Gamirova, Rimma, Coppola, Antonietta, Di Gennaro, Giancarlo, Labate, Angelo, Sofia, Vito, Kluger, Gerhard J, Gambardella, Antonio, Kasteleijn-Nolst Trenite, Dorothee, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexi, Striano, Pasquale, Di Bonaventura, Carlo

مصطلحات موضوعية: Jeavons Syndrome, classification, eyelid myoclonia with absences (EMA), idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36307934; info:eu-repo/semantics/altIdentifier/wos/WOS:000881948000001; journal:EPILEPSIA; https://hdl.handle.net/11573/1659037Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142092302

الإتاحة: https://doi.org/10.1111/epi.17450Test
https://hdl.handle.net/11573/1659037Test

المؤلفون: Yujun Yuan, Fenghua Yang, Liang Huo, Yuying Fan, Xueyan Liu, Qiong Wu, Hua Wang

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: eyelid myoclonus, Jeavons syndrome, status epilepticus, photosensitiveness, eye closure sensitivity, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.671732/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/40ae6b43ca1b45be9f6500df9b19a0d7Test

المؤلفون: Mayo, Sonia, Gómez Manjón, Irene, Fernández Martínez, Fco. Javier, Camacho Salas, Ana, Martínez, Francisco, Benito León, Julián

مصطلحات موضوعية: Jeavons syndrome, eyelid myoclonia with absences, candidate genes, SYNGAP1, KIA02022, NEXMIF, RORB, CHD2, Genética médica, Neurociencias (Medicina), 2410.07 Genética Humana, 2490 Neurociencias

وصف الملف: application/pdf

العلاقة: CP20/00154; grant number 2019/0144; https://doi.org/10.3390/ijms22115609Test; https://www.mdpi.com/1422-0067/22/11/5609/htmTest; https://hdl.handle.net/20.500.14352/7050Test

الإتاحة: https://doi.org/20.500.14352/7050Test
https://doi.org/10.3390/ijms22115609Test
https://hdl.handle.net/20.500.14352/7050Test
https://www.mdpi.com/1422-0067/22/11/5609/htmTest

المؤلفون: Sonia Mayo, Irene Gómez-Manjón, Fco. Javier Fernández-Martínez, Ana Camacho, Francisco Martínez, Julián Benito-León

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 11; Pages: 5609

مصطلحات موضوعية: Jeavons syndrome, eyelid myoclonia with absences, candidate genes, SYNGAP1, KIA02022, NEXMIF, RORB, CHD2

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms22115609Test

الإتاحة: https://doi.org/10.3390/ijms22115609Test

المؤلفون: Selma TOPALOĞLU TUAÇ, Cengiz YALÇINKAYA, Ahmet Veysi DEMİRBİLEK

المصدر: Archives of Epilepsy, Vol 23, Iss 2, Pp 72-76 (2017)

مصطلحات موضوعية: eyelid myoclonic absence epilepsy, eyelid myoclonus, jeavons syndrome, Neurology. Diseases of the nervous system, RC346-429, Medicine

وصف الملف: electronic resource

العلاقة: http://archepilepsy.org/archives/archive-detail/article-previewTest/jeavons-syndrome-12-cases/54975; https://doaj.org/toc/2792-0550Test

الوصول الحر: https://doaj.org/article/6a3b7f13cc5940d99e04a156124b5ae6Test