المؤلفون: M. Jiménez Legido, C. Cortés Ledesma, B. Bernardino Cuesta, L. López Marín, V. Cantarín Extremera, C. Pérez-Cerdá, B. Pérez González, E. López Martín, L. González Gutiérrez-Solana

المصدر: Neurología, Vol 37, Iss 2, Pp 91-100 (2022)

مصطلحات موضوعية: Early-onset absence epilepsy, Paroxismal dyskinesia, Refractory epilepsy, GLUT1, Low CSF glucose, SLC2A1, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0213485319300167Test; https://doaj.org/toc/0213-4853Test

الوصول الحر: https://doaj.org/article/6c9ca96478384ceba038176cb16093caTest

المؤلفون: Jiménez Legido, M, Cortés Ledesma, C, Bernardino Cuesta, B, López Marín, L, Cantarín Extremera, V, Pérez-Cerdá, C, Pérez González, B, Lopez-Martin, Estrella, González Gutiérrez-Solana, L

المساهمون: Instituto de Salud Carlos III

مصطلحات موضوعية: Ausencias precoces, Discinesia paroxística, Early-onset absence epilepsy, Epilepsia refractaria, GLUT1, Hipoglucorraquia, Low CSF glucose, Paroxismal dyskinesia, Refractory epilepsy, SLC2A1

العلاقة: https://doi.org/10.1016/j.nrleng.2018.10.023Test; Neurologia (Engl Ed). 2022;37(2):91-100.; http://hdl.handle.net/20.500.12105/14127Test; Neurologia (Barcelona, Spain)

الإتاحة: https://doi.org/20.500.12105/14127Test
https://doi.org/10.1016/j.nrleng.2018.10.023Test
https://hdl.handle.net/20.500.12105/14127Test

المؤلفون: Kim, Soo Yeon, Jang, Se Song, Kim, Jong-Il, Kim, Hunmin, Hwang, Hee, Choi, Ji Eun, Chae, Jong-Hee, Kim, Ki Joong, Lim, Byung Chan

المساهمون: Kim, Jong-Il, Hwang, Hee, Choi, Ji Eun, Chae, Jong-Hee, Kim, Ki Joong

مصطلحات موضوعية: MYOCLONIC-ASTATIC EPILEPSY, ABSENCE EPILEPSY, INTELLECTUAL DISABILITY, MUTATIONS, DEFICIENCY, SEIZURES, Epilepsy with myoclonic-atonic seizures, Early onset absence epilepsy, Genetic testing

العلاقة: Seizure : the journal of the British Epilepsy Association, Vol.71, pp.222-228; https://hdl.handle.net/10371/198159Test; 000491641400038; 2-s2.0-85070236490; 89035

الإتاحة: https://doi.org/10.1016/j.seizure.2019.07.024Test
https://hdl.handle.net/10371/198159Test

المؤلفون: Jiménez Legido, M, Cortés Ledesma, C, Bernardino Cuesta, B, López Marín, L, Cantarín Extremera, V, Pérez-Cerdá, C, Pérez González, B, Lopez-Martin, Estrella, González Gutiérrez-Solana, L

مصطلحات موضوعية: Ausencias precoces, Discinesia paroxística, Epilepsia refractaria, GLUT1, Hipoglucorraquia, SLC2A1, Early-onset absence epilepsy, Low CSF glucose, Paroxismal dyskinesia, Refractory epilepsy

العلاقة: https://doi.org/10.1016/j.nrl.2018.10.006Test; Neurologia (Engl Ed) . 2019 ;S0213-4853(19)30016-7.; http://hdl.handle.net/20.500.12105/13955Test; Neurologia (Barcelona, Spain)

الإتاحة: https://doi.org/20.500.12105/13955Test
https://doi.org/10.1016/j.nrl.2018.10.006Test
https://hdl.handle.net/20.500.12105/13955Test

المؤلفون: S. Agostinellia, M. Traversob, P. Accorsic, F. Beccaria, V. Belcastroe, G. Capovillad, S. Cappaneraf, A. Coppolag, B. D. Bernardinah, F. Darrah, M. Ferrettib, M. Eliai, D. Galeonej, L. Giordanoc, G. Gobbik, F. Nicital, P. Parisim, M. Pezzellab, A. Spalicen, S. Strianog, E. Tozzio, C. Minetti, F. Zara, P. Sranio, A. Verrotti, A. Vignoli

المساهمون: S. Agostinellia, M. Traversob, P. Accorsic, F. Beccaria, V. Belcastroe, G. Capovillad, S. Cappaneraf, A. Coppolag, B.D. Bernardinah, F. Darrah, M. Ferrettib, M. Eliai, D. Galeonej, L. Giordanoc, G. Gobbik, F. Nicital, P. Parisim, M. Pezzellab, A. Spalicen, S. Strianog, E. Tozzio, A. Vignoli, C. Minetti, F. Zara, P. Sranio, A. Verrotti

مصطلحات موضوعية: Early-onset absence epilepsy, GLUT-1 deficiency syndrome, SLC2A1 gene, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23020086; info:eu-repo/semantics/altIdentifier/wos/WOS:000317609800024; volume:20; issue:5; firstpage:856; lastpage:859; numberofpages:4; journal:EUROPEAN JOURNAL OF NEUROLOGY; http://hdl.handle.net/2434/223179Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84876344842

الإتاحة: https://doi.org/10.1111/j.1468-1331.2012.03871.xTest
http://hdl.handle.net/2434/223179Test

المؤلفون: Millichap, J Gordon

المصدر: Pediatric Neurology Briefs; Vol 27, No 11 | Nov 2013; 84-85 ; 2166-6482 ; 1043-3155 ; 10.15844/pedneurbriefs-27-11

مصطلحات موضوعية: Typical Absence Seizures, Childhood Absence Epilepsy, Pure Early Onset Absence Epilepsy

وصف الملف: application/xml; application/pdf

العلاقة: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-11-5/710Test; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-11-5/711Test; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-11-5Test

الإتاحة: https://doi.org/10.15844/pedneurbriefs-27-11-5Test
https://doi.org/10.15844/pedneurbriefs-27-11Test
https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-11-5Test

المؤلفون: J Gordon Millichap

المصدر: Pediatric Neurology Briefs, Vol 27, Iss 11, Pp 84-85 (2013)

مصطلحات موضوعية: typical absence seizures, childhood absence epilepsy, pure early onset absence epilepsy, Pediatrics, RJ1-570

العلاقة: https://www.pediatricneurologybriefs.com/articles/361Test; https://doaj.org/toc/1043-3155Test; https://doaj.org/toc/2166-6482Test; https://doaj.org/article/27d804a08b644b57949fd338f6346e35Test

الإتاحة: https://doi.org/10.15844/pedneurbriefs-27-11-5Test
https://doaj.org/article/27d804a08b644b57949fd338f6346e35Test

المؤلفون: C. Cortés Ledesma, E. López Martín, L. González Gutiérrez-Solana, B. Bernardino Cuesta, V. Cantarín Extremera, M. Jiménez Legido, Celia Pérez-Cerdá, L. López Marín, B. Pérez González

المصدر: Repisalud
Instituto de Salud Carlos III (ISCIII)

مصطلحات موضوعية: medicine.medical_specialty, Early-onset absence epilepsy, CSF glucose, medicine.medical_treatment, SLC2A1, Hipoglucorraquia, Gastroenterology, Paroxismal dyskinesia, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Childhood absence epilepsy, Internal medicine, medicine, Exome sequencing, Discinesia paroxística, Refractory epilepsy, Low CSF glucose, biology, business.industry, Paroxysmal dyskinesia, medicine.disease, Epilepsia refractaria, biology.protein, GLUT1, Ausencias precoces, Neurology (clinical), business, 030217 neurology & neurosurgery, Glucose Transporter Type 1, Ketogenic diet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1800fb6809bf6f6f3215c6bd68d7c60cTest
http://hdl.handle.net/20.500.12105/13955Test

المؤلفون: M, Jiménez Legido, C, Cortés Ledesma, B, Bernardino Cuesta, L, López Marín, V, Cantarín Extremera, C, Pérez-Cerdá, B, Pérez González, E, López Martín, L, González Gutiérrez-Solana

المساهمون: Instituto de Salud Carlos III

المصدر: Repisalud
Instituto de Salud Carlos III (ISCIII)

مصطلحات موضوعية: Early-onset absence epilepsy, Low CSF glucose, Monosaccharide Transport Proteins, SLC2A1, Hipoglucorraquia, Epilepsia refractaria, Paroxismal dyskinesia, 03 medical and health sciences, 0302 clinical medicine, Phenotype, Epilepsy, Absence, Humans, Ausencias precoces, Refractory epilepsy, Child, Discinesia paroxística, GLUT1, 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64bd50e5430c15bc9e123306aff271f7Test
https://pubmed.ncbi.nlm.nih.gov/35279228Test

المؤلفون: Vincenzo Belcastro, Dario Pruna, Massimo Mastrangelo, Raffaella Cusmai, Francesca Darra, Pasquale Striano, Alberto Verrotti, Pasquale Parisi, Duccio Maria Cordelli, Giangennaro Coppola, Patrizia Accorsi, Giuseppe Milito, Aglaia Vignoli, Lucio Giordano

المساهمون: Giordano, Lucio, Vignoli, Aglaia, Cusmai, Raffaella, Parisi, Pasquale, Mastrangelo, Massimo, Coppola, Giangennaro, Cordelli, Duccio Maria, Accorsi, Patrizia, Milito, Giuseppe, Darra, Francesca, Pruna, Dario, Belcastro, Vincenzo, Verrotti, Alberto, Striano, Pasquale

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Prognosi, SLC2A1, Early onset absence epilepsy, First year, GLUT-1, Prognosis, Therapy, Age of Onset, Child, Child, Preschool, Cohort Studies, Electroencephalography, Epilepsy, Absence, Female, Follow-Up Studies, Humans, Neurology, Neurology (clinical), idiopathic epilepsy, Follow-Up Studie, Idiopathic generalized epilepsy, Epilepsy, Childhood absence epilepsy, medicine, Preschool, childhood epilepsy, glut-1, Early onset, medicine.diagnostic_test, business.industry, medicine.disease, Absence, early onset absence epilepsy, first year, therapy, prognosis, slc2a1, Cohort, Age of onset, Cohort Studie, business, Cohort study, Human

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b97b87fb2e18e7081452d0a8976cf63Test
http://hdl.handle.net/11585/647595Test