المؤلفون: Agostinelli, S., Traverso, M., Accorsi, P., Beccaria, F., Belcastro, V., Capovilla, G., Cappanera, S., Coppola, A., Dalla Bernardina, B., Darra, F., Ferretti, M., Elia, M., Galeone, D., Giordano, L., Gobbi, G., Nicita, Francesco, Parisi, Pasquale, Pezzella, M., Spalice, Alberto, Striano, S., Tozzi, E., Vignoli, A., Minetti0, C., Zara, F., Striano, P., Verrotti, A., Behalf Of The Collaborative Group Of Società Italiana Di Neurologia Pediatrica, O. N.

المساهمون: Agostinelli, S., Traverso, M., Accorsi, P., Beccaria, F., Belcastro, V., Capovilla, G., Cappanera, S., Coppola, A., Dalla Bernardina, B., Darra, F., Ferretti, M., Elia, M., Galeone, D., Giordano, L., Gobbi, G., Nicita, F., Parisi, P., Pezzella, M., Spalice, A., Striano, S., Tozzi, E., Vignoli, A., Minetti, C., Zara, F., Striano, P., Verrotti, A.

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Early-onset absence epilepsy, GLUT-1 deficiency syndrome, SLC2A1 gene, Group ii, Epilepsy, Childhood absence epilepsy, Pharmacotherapy, slc2a1 gene, glut-1 deficiency syndrome, early-onset absence epilepsy, Slc2a1 gene, Humans, Medicine, Family history, Retrospective Studies, Early onset, Glucose Transporter Type 1, business.industry, Retrospective cohort study, medicine.disease, Epilepsy, Absence, Neurology, Child, Preschool, Mutation, Anticonvulsants, Drug Therapy, Combination, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8772579729b14d52623a184cafbb95fTest
http://hdl.handle.net/11562/476750Test

المؤلفون: Judith Helen Cross, Jacinta M McMahon, Mark T Mackay, Suzanne Drury, Josemir W. Sander, Nicholas Lench, Natasha E. Schoeler, Sanjay M. Sisodiya, Ingrid E. Scheffer

المصدر: Developmental medicine and child neurology. 57(10)

مصطلحات موضوعية: Male, medicine.medical_specialty, Deficiency syndrome, Genotyping Techniques, Monosaccharide Transport Proteins, Seizure reduction, Hospital records, Epilepsy, Developmental Neuroscience, Seizures, Internal medicine, Slc2a1 gene, medicine, Humans, Psychiatry, Child, Glucose Transporter Type 1, business.industry, Transporter, Seizure freedom, medicine.disease, Treatment Outcome, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, Diet, Ketogenic, Carbohydrate Metabolism, Inborn Errors, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70116db952face53689b0a000f742262Test
https://pubmed.ncbi.nlm.nih.gov/25997718Test

المؤلفون: Kristin Engelstad, Emanuele Barca, Maoxue Tang, Salvatore DiMauro, Darryl C. De Vivo, Giulio Kleiner, Catarina M. Quinzii

المصدر: JIMD Reports ISBN: 9783662532775

مصطلحات موضوعية: medicine.medical_specialty, endocrine system, Deficiency syndrome, Cerebellar ataxia, medicine.medical_treatment, nutritional and metabolic diseases, food and beverages, Biology, Bioinformatics, Article, carbohydrates (lipids), Endocrinology, Slc2a1 gene, Internal medicine, medicine, medicine.symptom, hormones, hormone substitutes, and hormone antagonists, Ketogenic diet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb96697c0da14f36d6ab9d197a714af8Test
http://hdl.handle.net/11570/3065342Test

المؤلفون: Nathalie Seta, Sandrine Vuillaumier-Barrot, Alice Kuster, Alexis Chenouard

المساهمون: Université de Nantes (UN), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: JIMD reports
JIMD reports, 2015, 18, pp.79-83. ⟨10.1007/8904_2014_352⟩
JIMD Reports ISBN: 9783662448625

مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, endocrine system, Organic Acidemia, Ketone Body Production, medicine.medical_treatment, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, 030304 developmental biology, 0303 health sciences, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, business.industry, Neuroglycopenia, Metabolic disorder, Glucose transporter, nutritional and metabolic diseases, medicine.disease, 3. Good health, carbohydrates (lipids), SLC2A1 Gene, Endocrinology, Ketone Body, Ketone bodies, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Ketosis, business, Ketogenic Diet, 030217 neurology & neurosurgery, Glucose Transporter Type 1, hormones, hormone substitutes, and hormone antagonists, Ketogenic diet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1096536323e7c02ddd259a56845ec2a6Test
https://hal.inrae.fr/hal-02632260Test

المؤلفون: Yücesan, Emrah

المساهمون: YÜCESAN, EMRAH

مصطلحات موضوعية: Yücesan E., Identification of a De Novo Splice-site Mutation in SLC2A1 Gene Causing Glut1 Deficiency Syndrome in a Turkish Patient-, European Human Genetics Conference (ESHG), Nuremberg, Almanya, 23 - 26 Haziran 2012, ss.1

العلاقة: https://openaccess.bezmialem.edu.tr/handle/20.500.12645/12776Test

الإتاحة: https://doi.org/20.500.12645/12776Test
https://openaccess.bezmialem.edu.tr/handle/20.500.12645/12776Test
https://hdl.handle.net/20.500.12645/12776Test

المؤلفون: Sara Olivotto, Anna Tagliabue, Federica Teutonico, Pierangelo Veggiotti, Giovanna Zorzi, Marika Bianchi, Umberto Balottin, Cristina Cereda, Francesca Ragona, Lucio Giordano, Valentina De Giorgis, Nardo Nardocci

المصدر: Seizure. 24

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Movement disorders, Adolescent, Monosaccharide Transport Proteins, Genetic counseling, Developmental Disabilities, GLUT1 deficiency syndrome, Clinical Neurology, SLC2A1 gene, Disease, Neurological disorder, Young Adult, Paroxysmal exercise-induced dyskinesia, Intellectual disability, medicine, Humans, Child, Genetic Association Studies, Genetics, Family Health, Glucose Transporter Type 1, Epilepsy, business.industry, Autosomal dominant trait, Electroencephalography, General Medicine, Ketogenic diet, Middle Aged, medicine.disease, Penetrance, Magnetic Resonance Imaging, Cognitive impairment, Dyskinesia, Neurology, Italy, Child, Preschool, Mutation, Female, Neurology (clinical), medicine.symptom, business, Diet, Ketogenic, Carbohydrate Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac8f0b28c427889a48fc027bc0d7ac2Test
https://pubmed.ncbi.nlm.nih.gov/25564316Test

المؤلفون: Yücesan, Emrah

المساهمون: YÜCESAN, EMRAH

مصطلحات موضوعية: Yücesan E., Genetic Analysis of SLC2A1 Gene Coding Glucose Transporter GLUT1 In Turkish Ididpathic Generalized Epilepsy Patients-, 29th International Epilepsy Congress, Rome, İtalya, 28 Ağustos - 01 Eylül 2011, ss.1

العلاقة: https://openaccess.bezmialem.edu.tr/handle/20.500.12645/12716Test

الإتاحة: https://doi.org/20.500.12645/12716Test
https://openaccess.bezmialem.edu.tr/handle/20.500.12645/12716Test
https://hdl.handle.net/20.500.12645/12716Test

المؤلفون: VEGGIOTTI, PIERANGELO, Valentina De Giorgis

المساهمون: Veggiotti, Pierangelo, Valentina De, Giorgis

مصطلحات موضوعية: GLUT1 deficiency syndrome, SLC2A1 gene, Epilepsy, Movement disorder, Mental retardation, Ketogenic diet, Modified Atkins diet, Low glycemic index treatment, Triheptanoin, Antiepileptic drugs

العلاقة: info:eu-repo/semantics/altIdentifier/wos/000334416100001; volume:16; journal:CURRENT TREATMENT OPTIONS IN NEUROLOGY; http://hdl.handle.net/11571/979660Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84899091851

الإتاحة: https://doi.org/10.1007/s11940-014-0291-8Test
http://hdl.handle.net/11571/979660Test

المؤلفون: P. Veggiotti, Valentina De Giorgis

المساهمون: P. Veggiotti, V. De Giorgis

مصطلحات موضوعية: GLUT1 deficiency syndrome, SLC2A1 gene, Epilepsy, Movement disorder, Mental retardation, Ketogenic diet, Modified Atkins diet, Low glycemic index treatment, Triheptanoin, Antiepileptic drugs, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24634059; info:eu-repo/semantics/altIdentifier/wos/WOS:000334416100001; volume:16; issue:5; firstpage:1; lastpage:12; numberofpages:12; journal:CURRENT TREATMENT OPTIONS IN NEUROLOGY; http://hdl.handle.net/2434/534212Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84899091851

الإتاحة: https://doi.org/10.1007/s11940-014-0291-8Test
http://hdl.handle.net/2434/534212Test

المؤلفون: Joerg Klepper, Gul Serdaroglu, Sanem Yilmaz, Sarenur Gökben, Hasan Tekgul

المصدر: Epilepsy & Behavior. 21:200-202

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Deficiency syndrome, Video eeg, Epilepsies, Myoclonic, Arginine, Myoclonic absences, Behavioral Neuroscience, Epilepsy, Internal medicine, Slc2a1 gene, medicine, Humans, Cysteine, Child, Glucose Transporter Type 1, business.industry, Glucose transporter, medicine.disease, Endocrinology, Neurology, Mutation, Shivering, Female, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293ef33d19de174663112f04cc2b5815Test
https://doi.org/10.1016/j.yebeh.2011.03.027Test