المؤلفون: Samuel F. Berkovic, David R. Thorburn, L. Hamiwka, Arvid Suls, Heather C Mefford, P. De Jonghe, Leanne M. Dibbens, B. Appleton, Todor Arsov, Mark T Mackay, Elaine C. Wirrell, Simone C. Yendle, Ingrid E. Scheffer, Tommy Stödberg, Thierry Bienvenu, Jeremy L. Freeman, Kent Kelley, Jacinta M McMahon, John C. Mulley, D. Carranza Rojo

المساهمون: Rojo, D Carranza, Hamiwka, L, McMahon, JM, Dibbens, LM, Arsov, T, Suls, A, Stodberg, T, Kelley, K, Wirrell, E, Appleton, B, Mackay, M, Freeman, JL, Yendle, SC, Berkovic, SF, Bienvenu, T, De Jonghe, P, Thorburn, DR, Mulley, JC, Mefford, HC, Scheffer, IE

المصدر: Neurology

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, DNA Copy Number Variations, CDKL5, Nerve Tissue Proteins, DNA-Directed DNA Polymerase, Protein Serine-Threonine Kinases, Biology, Bioinformatics, Sodium Channels, Epilepsy, Munc18 Proteins, Dravet syndrome, Convulsion, medicine, Humans, STXBP1, Missense mutation, Genetic Predisposition to Disease, Genetic Testing, Copy-number variation, Child, Genetic testing, severe infantile multifocal epilepsy, medicine.diagnostic_test, copy number variation, Infant, Articles, Cadherins, medicine.disease, Protocadherins, DNA Polymerase gamma, NAV1.1 Voltage-Gated Sodium Channel, epileptic encephalopathy, Child, Preschool, Mutation, Female, Human medicine, Epilepsies, Partial, Neurology (clinical), medicine.symptom

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5505529999beb05557f80acb3720b784
https://doi.org/10.1212/wnl.0b013e318227046d

المؤلفون: Samuel F. Berkovic, Simone Mandelstam, Douglas E. Crompton, Matthew Zemel, Gemma L. Carvill, Amy L Schneider, Jacinta M McMahon, A. Simon Harvey, Julia Saykally, Joseph Sullivan, Brigid M. Regan, Saul A. Mullen, Katherine B. Howell, Leanne M. Dibbens, Heather C Mefford, Ingrid E. Scheffer, Richard J. Leventer

المساهمون: Carvill, GL, Crompton, DE, Regan, BM, McMahon, JM, Saykally, J, Zemel, M, Schneider, AL, Dibbens, L, Howell, KB, Mandelstam, S, Leventer, RJ, Harvey, AS, Mullen, SA, Berkovic, SF, Sullivan, J, Scheffer, IE, Mefford, HC

المصدر: Neurology: Genetics

مصطلحات موضوعية: familial focal epilepsy, epileptic spasms, Bioinformatics, DEPDC5 mutations, Article, 03 medical and health sciences, Epilepsy, spasms, 0302 clinical medicine, medicine, Family history, Genetics (clinical), 030304 developmental biology, 0303 health sciences, business.industry, Cortical dysplasia, medicine.disease, NPRL3, DEPDC5, 3. Good health, Epileptic spasms, Clinical research, Cohort, epilepsy, Neurology (clinical), business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccfb61d8d150569701277847e29d545b
https://doi.org/10.1212/nxg.0000000000000016