المؤلفون: Jan Papez, Jiri Starha, Katerina Slaba, Jaroslav A Hubacek, Jakub Pecl, Stefania Aulicka, Milan Urik, Serdar Ceylaner, Petra Vesela, Ondrej Slaby, Petr Jabandziev

المصدر: Biomedical Papers, Vol 165, Iss 4, Pp 454-457 (2021)

مصطلحات موضوعية: hypomagnesemia, hypocalcemia, transient receptor potential melastatin 6, infantile seizures, Medicine

وصف الملف: electronic resource

العلاقة: https://biomed.papers.upol.cz/artkey/bio-202104-0017_novel-mutations-in-trpm6-gene-associated-with-primary-hypomagnesemia-with-secondary-hypocalcemia-case-report.phpTest; https://doaj.org/toc/1213-8118Test; https://doaj.org/toc/1804-7521Test

الوصول الحر: https://doaj.org/article/41128d7da2d14bd8b8c01741231cabd0Test

المؤلفون: Berecki, Geza, Howell, Katherine B., Heighway, Jacqueline, Olivier, Nelson, Rodda, Jill, Overmars, Isabella, Vlaskamp, Danique R. M., Ware, Tyson L., Ardern-Holmes, Simone, Lesca, Gaetan, Alber, Michael, Veggiotti, Pierangelo, Scheffer, Ingrid E., Berkovic, Samuel F., Wolff, Markus, Petrou, Steven

المصدر: Berecki , G , Howell , K B , Heighway , J , Olivier , N , Rodda , J , Overmars , I , Vlaskamp , D R M , Ware , T L , Ardern-Holmes , S , Lesca , G , Alber , M , Veggiotti , P , Scheffer , I E , Berkovic , S F , Wolff , M & Petrou , S 2022 , ' Functional correlates of clinical phenotype and severity in recurrent SCN2A variants ' , Communications biology , vol. 5 , no. 1 , 515 . https://doi.org/10.1038/s42003-022-03454-1Test

مصطلحات موضوعية: DE-NOVO MUTATIONS, NEOCORTICAL NEURONS, INFANTILE SEIZURES, MISSENSE MUTATION, NA(V)1.2 FUNCTION, SODIUM, EPILEPSY, DISORDER, SPECTRUM, SUBUNIT

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/c9b2aa3e-65e5-47d8-9c9b-cb52103e22e7Test

الإتاحة: https://doi.org/10.1038/s42003-022-03454-1Test
https://hdl.handle.net/11370/c9b2aa3e-65e5-47d8-9c9b-cb52103e22e7Test
https://research.rug.nl/en/publications/c9b2aa3e-65e5-47d8-9c9b-cb52103e22e7Test
https://pure.rug.nl/ws/files/224340762/s42003_022_03454_1.pdfTest

المؤلفون: Annamaria Landolfi, Paolo Barone, Roberto Erro

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: paroxysmal kinesigenic dyskinesia, benign familial infantile seizures, hemiplegic migraine, synaptic dysfunction, cerebellum, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.629747/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/e6f49424945145109668800678b0d6bfTest

المؤلفون: Géza Berecki, Katherine B. Howell, Jacqueline Heighway, Nelson Olivier, Jill Rodda, Isabella Overmars, Danique R. M. Vlaskamp, Tyson L. Ware, Simone Ardern-Holmes, Gaetan Lesca, Michael Alber, Pierangelo Veggiotti, Ingrid E. Scheffer, Samuel F. Berkovic, Markus Wolff, Steven Petrou

المصدر: Communications biology, 5(1):515. Nature Publishing Group

مصطلحات موضوعية: DISORDER, SPECTRUM, NAV1.2 Voltage-Gated Sodium Channel, Autism Spectrum Disorder, NEOCORTICAL NEURONS, Medicine (miscellaneous), General Biochemistry, Genetics and Molecular Biology, SODIUM, Phenotype, MISSENSE MUTATION, DE-NOVO MUTATIONS, Intellectual Disability, NA(V)1.2 FUNCTION, SUBUNIT, Humans, General Agricultural and Biological Sciences, EPILEPSY, INFANTILE SEIZURES

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53549a1481cd829330ebfe1910968ff7Test
https://doi.org/10.1038/s42003-022-03454-1Test

المؤلفون: Schwarz, N., Hahn, A., Bast, T., Mueller, S., Loeffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., Lehesjoki, A. -E., Neubauer, B. A., Lerche, H., Hedrich, U. B. S.

المساهمون: Clinicum, Children's Hospital, Lastenneurologian yksikkö, Research Programs Unit, Neuroscience Center, Department of Medical and Clinical Genetics, Tutkimusryhmä Anna-Elina Lehesjoki, Research Programme for Molecular Neurology, Medicum, HUS Children and Adolescents

مصطلحات موضوعية: Epilepsy, Genetics, Ataxia, Channelopathy, Sodium channel, DE-NOVO MUTATIONS, INFANTILE SEIZURES, PAROXYSMAL DYSKINESIA, OHTAHARA SYNDROME, 4-AMINOPYRIDINE, EXPRESSION, DISORDERS, MIGRAINE, SPECTRUM, PATIENT, 3112 Neurosciences, 3124 Neurology and psychiatry

وصف الملف: application/pdf

العلاقة: The authors thank all patients and their parents for participating in this study. We thank Markus Lommi, Ann-Liz Traskelin and Paula Hakala for technical assistance, Dr. Julian Schubert and Stefanie Garkisch for their help with analysis of genetic data. This work was supported by the German Research Foundation (DFG Le1030/10-2, Le1030/11-1 to HL, 416/5-1 to BAN) and the Folkhalsan Research Foundation (A-EL), partly in the frame of the EuroEPINOMICS programme of the European Science foundation.; Schwarz , N , Hahn , A , Bast , T , Mueller , S , Loeffler , H , Maljevic , S , Gaily , E , Prehl , I , Biskup , S , Joensuu , T , Lehesjoki , A -E , Neubauer , B A , Lerche , H & Hedrich , U B S 2016 , ' Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia ' , Journal of Neurology , vol. 263 , no. 2 , pp. 334-343 . https://doi.org/10.1007/s00415-015-7984-0Test; http://hdl.handle.net/10138/173743Test; 42373aff-0252-41f3-8003-3d7ca280b4cc; 84957973635; 000370270100018

الإتاحة: http://hdl.handle.net/10138/173743Test

المؤلفون: Wolff, Markus, Johannesen, Katrine M., Hedrich, Ulrike B. S., Masnada, Silvia, Rubboli, Guido, Gardella, Elena, Lesca, Gaetan, Ville, Dorothee, Milh, Mathieu, Villard, Laurent, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline, Schwarz, Niklas, Gerard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stephane, Miranda, Maria J., Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P., Mancini, Grazia, Biskup, Saskia, Hoertnagel, Konstanze, Doecker, Miriam, Bast, Thomas, Loddenkemper, Tobias, Wong-Kisiel, Lily, Fazeli, Walid, Striano, Pasquale, Dilena, Robertino, Fontana, Elena, Zara, Federico, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G., Arndt, Daniel H., Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brueckner, Reinhard, Pietz, Joachim, Golla, Guenther, Jillella, Dinesh, Linnet, Karen M., Charles, Perrine, Moog, Ute, Oiglane-Shlik, Eve, Mantovani, John F., Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G. Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L., Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah, Lemke, Johannes R., Kraegeloh-Mann, Ingeborg, Helbig, Ingo, Kluger, Gerhard, Lerche, Holger, Moller, Rikke S.

المصدر: Wolff , M , Johannesen , K M , Hedrich , U B S , Masnada , S , Rubboli , G , Gardella , E , Lesca , G , Ville , D , Milh , M , Villard , L , Afenjar , A , Chantot-Bastaraud , S , Mignot , C , Lardennois , C , Nava , C , Schwarz , N , Gerard , M , Perrin , L , Doummar , D , Auvin , S , Miranda , M J , Hempel , M , Brilstra , E , Knoers , N ....

مصطلحات موضوعية: SCN2A, epilepsy, epilepsy genetics, treatment response, sodium channel blockers, NEONATAL-INFANTILE SEIZURES, DE-NOVO MUTATIONS, AUTISM SPECTRUM DISORDER, MIGRATING FOCAL SEIZURES, ONSET EPISODIC ATAXIA, SODIUM-CHANNEL, SCN2A MUTATION, EPILEPTIC ENCEPHALOPATHY, INTELLECTUAL DISABILITY, MISSENSE MUTATION, Humans, Child, Preschool, Infant, Male, NAV1.2 Voltage-Gated Sodium Channel/genetics, Sodium Channel Blockers/therapeutic use, Young Adult, Adult, Female, Epilepsy/drug therapy, Denmark/epidemiology, Phenotype, Adolescent, Age of Onset

العلاقة: https://pure.au.dk/portal/en/publications/669fbe39-c8a9-4586-b9c1-5c9b8efeccb2Test

الإتاحة: https://doi.org/10.1093/brain/awx054Test
https://pure.au.dk/portal/en/publications/669fbe39-c8a9-4586-b9c1-5c9b8efeccb2Test
http://www.scopus.com/inward/record.url?scp=85019584830&partnerID=8YFLogxKTest

المؤلفون: Thuresson, A. C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton-Smith, Jill, Soussi Zander, C.

المصدر: Thuresson , A C , Van Buggenhout , G , Sheth , F , Kamate , M , Andrieux , J , Clayton-Smith , J & Soussi Zander , C 2016 , ' Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development ' , Clinical Genetics . https://doi.org/10.1111/cge.12797Test

مصطلحات موضوعية: 2q24 duplication, Benign familial neonatal-infantile seizures, Neonatal epilepsy, SCN2A, Voltage-gated sodium channel

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الإتاحة: https://doi.org/10.1111/cge.12797Test
https://research.manchester.ac.uk/en/publications/cd10e46f-0527-4b97-bafe-45fb52b8e93cTest
https://pure.manchester.ac.uk/ws/files/38535646/37112362.Thuresson_et_al_author_accepted.docxTest
http://www.scopus.com/inward/record.url?scp=84971621252&partnerID=8YFLogxKTest

المؤلفون: Damien Lederer, Aalt van Roest, Anouk Van de Vel, Berten Ceulemans

المصدر: European journal of paediatric neurology

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Nerve Tissue Proteins, Infantile seizures, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, 030225 pediatrics, ATP1A3, medicine, Humans, Family history, Retrospective Studies, business.industry, Infant, Newborn, Infant, Membrane Proteins, Causative gene, General Medicine, medicine.disease, Epilepsy, Benign Neonatal, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Cohort, Female, Human medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, PRRT2, Sudden onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84c7a09ab2a66c2450c30b529c8adc51Test
https://doi.org/10.1016/j.ejpn.2019.12.003Test

المؤلفون: Millichap, J Gordon

المصدر: Pediatric Neurology Briefs; Vol 27, No 04 | Apr 2013; 30-31 ; 2166-6482 ; 1043-3155 ; 10.15844/pedneurbriefs-27-4

مصطلحات موضوعية: Benign Familial Neonatal Seizures, Benign Familial Neonatal-Infantile Seizures, Benign Familial Infantile Seizures

وصف الملف: application/xml; application/pdf

العلاقة: https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-4-7/860Test; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-4-7/861Test; https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-4-7Test

الإتاحة: https://doi.org/10.15844/pedneurbriefs-27-4-7Test
https://doi.org/10.15844/pedneurbriefs-27-4Test
https://account.pediatricneurologybriefs.com/index.php/up-j-pnb/article/view/pedneurbriefs-27-4-7Test

المؤلفون: J Gordon Millichap

المصدر: Pediatric Neurology Briefs, Vol 27, Iss 4, Pp 30-31 (2013)

مصطلحات موضوعية: benign familial neonatal seizures, benign familial neonatal-infantile seizures, benign familial infantile seizures, Pediatrics, RJ1-570

العلاقة: https://www.pediatricneurologybriefs.com/articles/436Test; https://doaj.org/toc/1043-3155Test; https://doaj.org/toc/2166-6482Test; https://doaj.org/article/e1a1cfcf28e54affb75dbf2bd8669698Test

الإتاحة: https://doi.org/10.15844/pedneurbriefs-27-4-7Test
https://doaj.org/article/e1a1cfcf28e54affb75dbf2bd8669698Test