المؤلفون: Margaret O'Brien, Pierangelo Veggiotti, Silvia Masnada, Vinodh Narayanan, Hande Caglayan, Bruria Ben Zeev, Nicholas M. Allen, Kathleen M. Gorman, Eric D. Marsh, Simona Balestrini, Johannes R. Lemke, Ulrike B. S. Hedrich, Elena Gardella, Ralitza H. Gavrilova, Christian Korff, Judith Conroy, Ingo Helbig, Guido Rubboli, Fanny Dubois, Sérgio D.J. Pena, Dafne Dain Gandelman Horovitz, Thomas Bast, Eduardo Zaeyen, Beatriz G. Giráldez, Markus Wolff, Julian Schubert, Holger Lerche, Charu Kaiwar, Mutluay Arslan, Rikke S. Møller, Brenda E. Porter, Christina A.G. Bergqvist, Mary D. King, José M. Serratosa, Brendan C. Lanpher, Adrian Binelli, Eric W. Klee, Michal Tzadok, Keri Ramsey, Steffen Syrbe, Dragan Marjanovic, Sanjay M. Sisodiya, Matthis Synofzik

المصدر: Brain, Vol. 140, No 9 (2017) pp. 2337-2354
Masnada, S, Hedrich, U B S, Gardella, E, Schubert, J, Kaiwar, C, Klee, E W, Lanpher, B C, Gavrilova, R H, Synofzik, M, Bast, T, Gorman, K, King, M D, Allen, N M, Conroy, J, Ben Zeev, B, Tzadok, M, Korff, C, Dubois, F, Ramsey, K, Narayanan, V, Serratosa, J M, Giraldez, B G, Helbig, I, Marsh, E, O'Brien, M, Bergqvist, C A, Binelli, A, Porter, B, Zaeyen, E, Horovitz, D D, Wolff, M, Marjanovic, D, Caglayan, H S, Arslan, M, Pena, S D J, Sisodiya, S M, Balestrini, S, Syrbe, S, Veggiotti, P, Lemke, J R, Møller, R S, Lerche, H & Rubboli, G 2017, ' Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies ', Brain, vol. 140, no. 9, pp. 2337-2354 . https://doi.org/10.1093/brain/awx184
Brain 140(9), 2337-2354 (2017). doi:10.1093/brain/awx184

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Ataxia, Xenopus, genetics [Epilepsy], Encephalopathy, genetics [Kv1.2 Potassium Channel], Biology, medicine.disease_cause, physiology [Oocytes], complications [Brain Diseases], 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, Brain Diseases/complications/diagnosis/genetics, KCNA2 protein, human, Journal Article, medicine, Kv1.2 Potassium Channel, Missense mutation, Animals, ddc:610, diagnosis [Brain Diseases], Genetic Association Studies, Epilepsy/complications/diagnosis/genetics, Kv1.2 Potassium Channel/genetics, Mutation, Brain Diseases, ddc:618, genetics [Brain Diseases], medicine.disease, diagnosis [Epilepsy], Phenotype, 030104 developmental biology, Oocytes, Myoclonic epilepsy, Neurology (clinical), complications [Epilepsy], medicine.symptom, Oocytes/physiology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b391aea93f7b703bf495332ce58677fe
https://pubmed.ncbi.nlm.nih.gov/29050392