المؤلفون: Andreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, Ji Xinge, Eva Brilstra, Berten Ceulemans, Nicole Chemaly, Iris de Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An-Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal

المصدر: Brunklaus, A, Pérez-Palma, E, Ghanty, I, Xinge, J, Brilstra, E, Ceulemans, B, Chemaly, N, de Lange, I, Depienne, C, Guerrini, R, Mei, D, Møller, R S, Nabbout, R, Regan, B M, Schneider, A L, Scheffer, I E, Schoonjans, A S, Symonds, J D, Weckhuysen, S, Kattan, M W, Zuberi, S M & Lal, D 2022, ' Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies ', Neurology, vol. 98, no. 11, pp. e1163-e1174 . https://doi.org/10.1212/WNL.0000000000200028
Neurology

مصطلحات موضوعية: Epilepsy, NAV1.1 Voltage-Gated Sodium Channel/genetics, Epilepsies, Myoclonic/diagnosis, Medizin, Epilepsies, Myoclonic, NAV1.1 Voltage-Gated Sodium Channel, Cohort Studies, Early Diagnosis, Mutation, Humans, Neurology (clinical), Human medicine, Epilepsy/diagnosis, Child, Research Article, Retrospective Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea97032f3619e914f9a8945895d4d44
https://portal.findresearcher.sdu.dk/da/publications/8c71508b-2124-41dd-a571-4b1c9905809d

المؤلفون: Lieven Lagae, H Van Esch, Maria Syrrou

مصطلحات موضوعية: Yeast artificial chromosome, Male, Gene Rearrangement, Cerebral Cortex/physiopathology, Epilepsies, Myoclonic, Epilepsy, Reflex/diagnosis/*genetics/physiopathology, Epilepsy, Reflex, Evoked Potentials/physiology, Intellectual Disability/diagnosis/genetics/physiopathology, Photosensitive epilepsy, Reflex Epilepsy, Intellectual Disability, Epilepsies, Myoclonic/diagnosis/*genetics/physiopathology, medicine, Humans, Evoked Potentials, Cerebral Cortex, Genetics, Chromosomes, Human, Pair 2, business.industry, Breakpoint, Infant, Newborn, Infant, Karyotype, Electroencephalography, General Medicine, Gene rearrangement, medicine.disease, Karyotyping, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, Abnormality, business, Beta Rhythm, Myoclonus, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d676636eb4467d3bab23b627fd76e492
http://olympias.lib.uoi.gr/jspui/handle/123456789/18723

المؤلفون: Bernsen, R A J A M, van der Naalt, J, Boonstra, S

المصدر: Nederlands Tijdschrift voor Geneeskunde, 137(51), 2625-2627. NLM (Medline)

مصطلحات موضوعية: Adult, Diagnosis, Differential, Male, Epilepsy, Tonic-Clonic/diagnosis, Epilepsies, Myoclonic/diagnosis, Humans, Female, Valproic Acid/therapeutic use

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::5c15b81e136f9e523ed4d3b791f8ce84
https://research.rug.nl/en/publications/6a6d7889-9f9a-4dc7-8e89-7513bde1a99f

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المؤلفون: Bahi-Buisson, Nadia, Roze, Emmanuel, Dionisi, Carlo, Escande, Fabienne, Valayannopoulos, Vassili, Feillet, François, Heinrichs, Claudine, Chadefaux-Vekemans, Bernadette, Dan, Bernard, de Lonlay, Pascale

المصدر: Developmental medicine and child neurology, 50 (12

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Psychologie, Adolescent, Adult, Alleles, Brain -- pathology, Brain Damage, Chronic -- diagnosis, Brain Damage, Chronic -- genetics, Child, Child, Preschool, DNA Mutational Analysis, Electroencephalography, Enzyme Activation -- genetics, Epilepsies, Myoclonic -- diagnosis, Epilepsies, Myoclonic -- genetics, Epilepsy, Absence -- diagnosis, Epilepsy, Absence -- genetics, Epilepsy, Generalized -- diagnosis, Epilepsy, Generalized -- genetics, Epilepsy, Tonic-Clonic -- diagnosis, Epilepsy, Tonic-Clonic -- genetics, Female, Genotype, Glutamate Dehydrogenase -- genetics, Guanosine Triphosphate -- blood, Guanosine Triphosphate -- physiology, Humans, Hyperammonemia -- diagnosis, Hyperammonemia -- genetics, Hyperinsulinism -- diagnosis, Hyperinsulinism -- genetics, Hypoglycemia -- diagnosis, Hypoglycemia -- genetics, Infant, Liver -- enzymology, Magnetic Resonance Imaging, Male, Mutation, Missense -- genetics, Neurologic Examination, Pancreas -- enzymology, Phenotype, Retrospective Studies, Young Adult, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/67661/3/67661.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/67661
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المؤلفون: Van Bogaert, Patrick, Azizieh, Naïm-Régis, Désir, Julie, Aeby, Alec, De Meirleir, Linda, Laes, Jean-François, Christiaens, Florence, Abramowicz, Marc

المصدر: Annals of neurology, 61 (6

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Adolescent, Amino Acid Sequence, Child, Child, Preschool, Consanguinity, DNA Mutational Analysis, Disease Progression, Epilepsies, Myoclonic -- diagnosis, Epilepsies, Myoclonic -- genetics, Female, Homozygote, Humans, Male, Molecular Sequence Data, Morocco, Mutation -- genetics, Pedigree, Potassium Channels -- genetics, Sequence Homology, Amino Acid, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/51464/3/51464.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51464
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المؤلفون: Dan, Bernard, Christiaens, Florence

المصدر: Seizure, 8 (4

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Psychologie, Angelman Syndrome -- diagnosis, Angelman Syndrome -- psychology, Cartoons as Topic, Child, Epilepsies, Myoclonic -- diagnosis, Epilepsies, Myoclonic -- psychology, Humans, Language Development Disorders -- diagnosis, Language Development Disorders -- psychology, Medicine in Art, Motion Pictures as Topic, Sick Role, Angelman syndrome, Cinema, Development, Epilepsy, Medical illustration, Speech, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/67700
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL