المؤلفون: Ingrid Scheffer, Colleen Campbell, Samuel Berkovic, Laura Jansen, Susannah Cornes, Brenda Porter, Kristen Park, Gianpiero Cavalleri, Nicholas Stong

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique

المصدر: Epilepsia
Epilepsia, Vol. 60, no.5, p. 797-806 (2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Parents, Delayed Diagnosis, Adolescent, data sharing, whole exome sequencing, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Data sequences, Seizures, Databases, Genetic, Exome Sequencing, Medicine, Humans, Exome, Medical diagnosis, Child, Exome sequencing, seizures, Retrospective Studies, Genetics, Family Health, business.industry, Information Dissemination, Siblings, Whole exome sequencing, Infant, Pathogenicity, medicine.disease, 030104 developmental biology, Neurology, Child, Preschool, Mutation, Full‐length Original Research, Data sharing, Female, Neurology (clinical), Genetic diagnosis, business, 030217 neurology & neurosurgery, Gene Discovery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a572777ec03a16016cddfbe26ca2552e
http://europepmc.org/articles/PMC6519344

المؤلفون: Elise Brimble, Ingrid Scheffer, Judith Bluvstein, Colleen Campbell, Samuel Berkovic, Laura Jansen, Susannah Cornes, Andrew Allen, Orrin Devinsky, Brenda Porter, Kristen Park, Nicholas Stong

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, SCN8A, Genotype, Sequence analysis, Population, Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, medicine, Humans, Missense mutation, Amino Acid Sequence, Genetic Testing, whole-exome sequencing, education, Exome, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, Genetic testing, Sequence (medicine), Genetics, education.field_of_study, Epilepsy, Base Sequence, medicine.diagnostic_test, Brief Report, Exons, Sequence Analysis, DNA, 3. Good health, Alternative Splicing, Phenotype, epileptic encephalopathy, 030104 developmental biology, Amino Acid Substitution, NAV1.6 Voltage-Gated Sodium Channel, alternative exon, Mutation, Female, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f63f0d218be6c51463ad65d87c61c5ff
https://doi.org/10.1038/gim.2017.100

المؤلفون: Manu Hegde, Natalie Witek, Susannah Cornes

المصدر: The Neurodiagnostic Journal. 57:269-275

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Time Factors, Evening, Video Recording, Nocturnal seizures, Nocturnal, Unexpected death, Death, Sudden, 03 medical and health sciences, Epilepsy, Seizure onset, 0302 clinical medicine, Humans, Medicine, Aged, Monitoring, Physiologic, Retrospective Studies, business.industry, Shift Work Schedule, Video EEG monitoring, Electroencephalography, Middle Aged, medicine.disease, Medical Laboratory Technology, 030104 developmental biology, Epilepsy monitoring, Female, Neurology (clinical), business, Hospital Units, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab04f08d39103fd2527e3ada111ce89f
https://doi.org/10.1080/21646821.2017.1357422

المؤلفون: James S. McGinley, Michael Privitera, Richard B. Lipton, Susannah Cornes, Sheryl R. Haut

المصدر: Neurology. 93(22)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Stress management, Drug Resistant Epilepsy, medicine.medical_treatment, law.invention, 03 medical and health sciences, Epilepsy, Diagnostic Self Evaluation, Young Adult, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, law, Seizures, Medicine, Humans, Circadian rhythm, Autogenic Training, Prospective Studies, Young adult, Prospective cohort study, Progressive muscle relaxation, business.industry, Middle Aged, medicine.disease, Affect, 030104 developmental biology, Mood, Physical therapy, Anticonvulsants, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Stress, Psychological

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4285eab91404e627275862bbeffdb473
https://pubmed.ncbi.nlm.nih.gov/31645468

المؤلفون: Dario J. Englot, Robert C. Knowlton, Tarik Tihan, Renatta Knox, Kurtis I. Auguste, Edward F. Chang, A. James Barkovich, Susannah Cornes, John D. Rolston, Doris D. Wang

المصدر: Epilepsia, vol 57, iss 1
Wang, DD; Knox, R; Rolston, JD; Englot, DJ; Barkovich, AJ; Tihan, T; et al.(2016). Surgical management of medically refractory epilepsy in patients with polymicrogyria. Epilepsia, 57(1), 151-161. doi: 10.1111/epi.13264. UCSF: Retrieved from: http://www.escholarship.org/uc/item/0wm8f2tn

مصطلحات موضوعية: 0301 basic medicine, Male, Drug Resistant Epilepsy, medicine.medical_treatment, Neurodegenerative, Neurosurgical Procedures, Hemimegalencephaly, Epilepsy, 0302 clinical medicine, Schizencephaly, Polymicrogyria, Epilepsy surgery, Longitudinal Studies, Child, Electrocorticography, Refractory epilepsy, Pediatric, Surgical treatment, Cortical dysplasia, medicine.diagnostic_test, Electroencephalography, Magnetic Resonance Imaging, Hemispherectomy, Malformation of cortical development, Treatment Outcome, Neurology, Child, Preschool, Neurological, Female, Patient Safety, Adult, medicine.medical_specialty, Adolescent, Clinical Sciences, Seizure outcome, Article, 03 medical and health sciences, Young Adult, Clinical Research, medicine, Humans, Preschool, Retrospective Studies, Analysis of Variance, Cortical malformation, Neurology & Neurosurgery, business.industry, Neurosciences, Infant, medicine.disease, Brain Disorders, Surgery, 030104 developmental biology, Congenital Structural Anomalies, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a9ba964b849b16bd1abb15a2a3e2e9
https://pubmed.ncbi.nlm.nih.gov/26647903