المؤلفون: Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç, Roope Mannikko, Michael G. Hanna, Sanjay M. Sisodiya, Hande S. Çağlayan

المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 498-503 (2019)

مصطلحات موضوعية: laryngospasm, SUDEP, myotonia, sodium channel, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2470-9239Test

الوصول الحر: https://doaj.org/article/0c01417c39a143c28d661c78f10b5a47Test

المؤلفون: Michael G. Hanna, Kayihan Uluc, Roope Männikkö, Sanjay M. Sisodiya, Asli Gundogdu, Dilsad Turkdogan, Hande Caglayan, Sunay Usluer, Emma Matthews

المساهمون: Turkdogan, Dilsad, Matthews, Emma, Usluer, Sunay, Gundogdu, Asli, Uluc, Kayihan, Mannikko, Roope, Hanna, Michael G., Sisodiya, Sanjay M., Caglayan, Hande S.

المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 498-503 (2019)
Epilepsia Open

مصطلحات موضوعية: SUDEP, Myotonic Disorder, Gene mutation, medicine.disease_cause, Bioinformatics, lcsh:RC346-429, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, 030225 pediatrics, medicine, Short Research Article, Laryngospasm, lcsh:Neurology. Diseases of the nervous system, Mutation, laryngospasm, business.industry, Apnea, Sudden infant death syndrome, medicine.disease, Myotonia, myotonia, Neurology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, sodium channel

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19f9256ca880bf1e26801787ccf59fc2Test
https://doi.org/10.1002/epi4.12347Test

المؤلفون: Umut Agyuz, Elif Sibel Aslan, Sunay Usluer, Dilsad Turkdogan, Figen Akalin

المساهمون: Turkdogan, Dilsad, Usluer, Sunay, Akalin, Figen, Agyuz, Umut, Aslan, Elif Sibel, Biruni Üniversitesi

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Fatal outcome, Cardiac arrhythmia, 03 medical and health sciences, Epilepsy, Death, Sudden, Fatal Outcome, Cardiac Conduction System Disease, Internal medicine, Medicine, Humans, Family, Sudden death in epilepsy, Child, business.industry, GTP-Binding Protein beta Subunits, Infant, General Medicine, medicine.disease, Early onset epileptic encephalopathy, Early Infantile Epileptic Encephalopathy, 030104 developmental biology, Neurology, Cardiac Conduction Disorder, Child, Preschool, Genetic diagnosis, Cardiology, Female, Neurology (clinical), GNB5 gene, business, Spasms, Infantile

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78869f26e685042abd25741c1b3f69cdTest
https://hdl.handle.net/11424/241739Test

المؤلفون: Costin Leu, Janine Altmüller, Melek Aslı Kayserili, Aslı Gündoğdu Eken, Holger Thiele, S. Hande Çağlayan, Thomas Sander, Uluç Yiş, Sunay Usluer, Peter Nürnberg

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 21(5)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Biology, Bioinformatics, Frameshift mutation, 03 medical and health sciences, Exon, Young Adult, 0302 clinical medicine, Genetic linkage, Seizures, medicine, Humans, Child, Exome sequencing, Genetics, Benign familial infantile epilepsy, Alternative splicing, Infant, General Medicine, Middle Aged, Voltage-Gated Sodium Channel beta-1 Subunit, medicine.disease, Epilepsy, Benign Neonatal, Pedigree, 030104 developmental biology, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, RNA splicing, Chromosomal region, Mutation, Female, Neurology (clinical), Epileptic Syndromes, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34bc71bb5a5ac4e941b53b966c5cbf90Test
https://pubmed.ncbi.nlm.nih.gov/28566192Test

المؤلفون: Dilsad Turkdogan, Bülent Kara, Aslı Gündoğdu Eken, Seda Salar, Betül Baykan, Uluç Yiş, Mutluay Arslan, Sunay Usluer, Cihan Meral, S. Hande Çağlayan, Nerses Bebek, Özlem Yalçın Çapan, Pinar Tekturk

المساهمون: Usluer, Sunay, Salar, Seda, Arslan, Mutluay, Yis, Uluc, Kara, Bulent, Tekturk, Pinar, Baykan, Betul, Meral, Cihan, Turkdogan, Dilsad, Bebek, Nerses, Capan, Ozlem Yalcin, Eken, Asli Gundogdu, Caglayan, S. Hande

المصدر: Seizure. 39

مصطلحات موضوعية: GEFS+, 0301 basic medicine, Male, Turkey, DNA Mutational Analysis, GEFS, FEBRILE SEIZURES PLUS, GENERALIZED EPILEPSY, Epilepsies, Myoclonic, Biology, SUDDEN UNEXPECTED DEATH, Epileptic Encephalopathy, Seizures, Febrile, 03 medical and health sciences, Exon, symbols.namesake, 0302 clinical medicine, Dravet syndrome, SCN1A Mutation, medicine, Missense mutation, Humans, Gene, Genetics, Sanger sequencing, SPECTRUM, Massive parallel sequencing, Epilepsy, SEVERE MYOCLONIC EPILEPSY, Dravet Syndrome, Point mutation, Infant, Newborn, Infant, General Medicine, medicine.disease, Phenotype, PREVALENCE, GENOTYPE, NAV1.1 Voltage-Gated Sodium Channel, 030104 developmental biology, Neurology, Child, Preschool, symbols, Epilepsy, Generalized, Female, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66db85011de0ab9819cdc22613ef9818Test
https://pubmed.ncbi.nlm.nih.gov/27236449Test

المؤلفون: Rikke S. Møller, Sarah von Spiczak, Christel Depienne, Anna-Elina Lehesjoki, Corinna Hartmann, Sanjay M. Sisodiya, Davide Mei, Anna-Kaisa Anttonen, Carla Marini, Federico Zara, Hiltrud Muhle, Marjan J. A. van Kempen, Eva H. Brilstra, Eija Hämäläinen, Sunay Usluer, Tania Djémié, Helle Hjalgrim, Pasquale Striano, Ingo Helbig, Carolien G.F. de Kovel, Peter De Jonghe, Johannes R. Lemke, Eija Gaily, Hande Caglayan, Laura Hernandez-Hernandez, Jacinta M McMahon, Ulrich Stephani, Heather C Mefford, Beatriz G. Giráldez, Caroline Nava, Eric LeGuern, Aarno Palotie, Johanna A. Jaehn, Arvid Suls, Nienke E. Verbeek, Ingrid E. Scheffer, Sarah Weckhuysen, Gemma L. Carvill, Rosa Guerrero-López, Candace T. Myers, Costin Leu, Bobby P. C. Koeleman, Elena Gennaro, Renzo Guerrini, Padhraig Gormley, José M. Serratosa

المساهمون: Department of Medical and Clinical Genetics, Neuroscience Center, Medicum, Clinicum, Children's Hospital, Lastenneurologian yksikkö, Institute for Molecular Medicine Finland, University of Helsinki, Research Programs Unit, Anna-Elina Lehesjoki / Principal Investigator, Research Programme for Molecular Neurology, Aarno Palotie / Principal Investigator, HUS Children and Adolescents, Genomics of Neurological and Neuropsychiatric Disorders, EuroEPINOMICS-RES Dravet Working Group

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 4(4), 457. John Wiley and Sons Inc.
Molecular genetics & genomic medicine
Djémié, T, Weckhuysen, S, von Spiczak, S, Carvill, G L, Jaehn, J, Anttonen, A-K, Brilstra, E, Caglayan, H S, de Kovel, C G, Depienne, C, Gaily, E, Gennaro, E, Giraldez, B G, Gormley, P, Guerrero-López, R, Guerrini, R, Hämäläinen, E, Hartmann, C, Hernandez-Hernandez, L, Hjalgrim, H, Koeleman, B P C, Leguern, E, Lehesjoki, A-E, Lemke, J R, Leu, C, Marini, C, McMahon, J M, Mei, D, Møller, R S, Muhle, H, Myers, C T, Nava, C, Serratosa, J M, Sisodiya, S M, Stephani, U, Striano, P, van Kempen, M J A, Verbeek, N E, Usluer, S, Zara, F, Palotie, A, Mefford, H C, Scheffer, I E, De Jonghe, P, Helbig, I, Suls, A & EuroEPINOMICS-RES Dravet working group 2016, ' Pitfalls in genetic testing : the story of missed SCN1A mutations ', Molecular Genetics & Genomic Medicine, vol. 4, no. 4, pp. 457-464 . https://doi.org/10.1002/mgg3.217Test

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, education, next‐generation sequencing, 3124 Neurology and psychiatry, DNA sequencing, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Dravet syndrome, Genetic screening, epilepsy, genetic screening, Journal Article, Genetics, medicine, Biology, Molecular Biology, Genetics (clinical), De novo mutations, Genetic testing, Epilepsy, medicine.diagnostic_test, business.industry, Epileptic encephalopathy, 3112 Neurosciences, medicine.disease, Standard technique, 3. Good health, 030104 developmental biology, Next-generation sequencing, symbols, next-generation sequencing, Human medicine, 3111 Biomedicine, business, Single mutation, 030217 neurology & neurosurgery

وصف الملف: application/pdf; image/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adba39dfd4c08fc8ba932a54ab5f5a23Test
https://hdl.handle.net/11858/00-001M-0000-002B-9C61-D11858/00-001M-0000-002B-9C5F-4Test