المؤلفون: Andreas Brunklaus, Tony Feng, Tobias Brünger, Eduardo Perez-Palma, Henrike Heyne, Emma Matthews, Christopher Semsarian, Joseph D Symonds, Sameer M Zuberi, Dennis Lal, Stephanie Schorge

المساهمون: Institute for Molecular Medicine Finland

مصطلحات موضوعية: Mammals, SCN8A, MEXILETINE, Epilepsy, SEVERE MYOCLONIC EPILEPSY, MUTATIONS, MEDICINE, 3112 Neurosciences, CHANNEL DEFECTS, Peripheral Nervous System Diseases, Voltage-Gated Sodium Channels, 3124 Neurology and psychiatry, Phenotype, SYSTEMS, NOMENCLATURE, Animals, EXTREME PAIN DISORDER, Channelopathies, SCN1A, Neurology (clinical), SCN2A, GAIN, CLINICAL SPECTRUM, SCN4A, SCN5A

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a00c6c7331dd9e1accf213b138345e3aTest
https://openaccess.sgul.ac.uk/id/eprint/114247/1/awac006.pdfTest

المؤلفون: Marialuisa Valente, Christina Fenger, Lucio Giordano, Federico Zara, Guido Rubboli, Ida Charlotte Bay Lund, Deb K. Pal, Christian Korff, Salvatore Buono, Renzo Guerrini, Sanjay M. Sisodiya, Alice Bonuccelli, Alessandro Orsini, Tobias Brünger, Sarah von Spiczak, Maria J Miranda, Michael B. Petersen, Peter Procopis, Michael F. Hammer, Ingo Helbig, Katrine M Johannesen, Tomasz Mazurczak, Pierangelo Veggiotti, Alejandra C. Encinas, Dennis Lal, Laura Hernandez-Hernandez, Silvia Masnada, Costanza Varesio, Margherita Mancardi, Antonietta Coppola, Tarja Linnankivi, Patrizia Accorsi, Thea Giacomini, Karine Lascelles, Sarah Burki, Anna-Elina Lehesjoki, Rikke S. Møller, Dorota Hoffman-Zacharska, Cristina Cereda, Melissa Rumple, Elena Gardella, Susanne Blichfeldt, Pasquale Striano, S. Krithika, Marilena Vecchi

المساهمون: Department of Medical and Clinical Genetics, University Management, Research Programme for Molecular Neurology, Research Programs Unit, University of Helsinki, HUS Children and Adolescents, Children's Hospital, Lastenneurologian yksikkö, Johannesen, Katrine M., Gardella, Elena, Encinas, Alejandra C., Lehesjoki, Anna-Elina, Linnankivi, Tarja, Petersen, Michael B., Lund, Ida Charlotte Bay, Blichfeldt, Susanne, Miranda, Maria J., Pal, Deb K., Lascelles, Karine, Procopis, Peter, Orsini, Alessandro, Bonuccelli, Alice, Giacomini, Thea, Helbig, Ingo, Fenger, Christina D., Sisodiya, Sanjay M., Hernandez-Hernandez, Laura, Krithika, Sundararaman, Rumple, Melissa, Masnada, Silvia, Valente, Marialuisa, Cereda, Cristina, Giordano, Lucio, Accorsi, Patrizia, Bürki, Sarah E., Mancardi, Margherita, Korff, Christian, Guerrini, Renzo, von Spiczak, Sarah, Hoffman-Zacharska, Dorota, Mazurczak, Tomasz, Coppola, Antonietta, Buono, Salvatore, Vecchi, Marilena, Hammer, Michael F., Varesio, Costanza, Veggiotti, Pierangelo, Lal, Denni, Brünger, Tobia, Zara, Federico, Striano, Pasquale, Rubboli, Guido, Møller, Rikke S.

المصدر: Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A-E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705Test
Johannesen, K M, Gardella, E, Encinas, A C, Lehesjoki, A E, Linnankivi, T, Petersen, M B, Lund, I C B, Blichfeldt, S, Miranda, M J, Pal, D K, Lascelles, K, Procopis, P, Orsini, A, Bonuccelli, A, Giacomini, T, Helbig, I, Fenger, C D, Sisodiya, S M, Hernandez-Hernandez, L, Krithika, S, Rumple, M, Masnada, S, Valente, M, Cereda, C, Giordano, L, Accorsi, P, Bürki, S E, Mancardi, M, Korff, C, Guerrini, R, von Spiczak, S, Hoffman-Zacharska, D, Mazurczak, T, Coppola, A, Buono, S, Vecchi, M, Hammer, M F, Varesio, C, Veggiotti, P, Lal, D, Brünger, T, Zara, F, Striano, P, Rubboli, G & Møller, R S 2019, ' The spectrum of intermediate SCN8A-related epilepsy ', Epilepsia, vol. 60, no. 5, pp. 830-844 . https://doi.org/10.1111/epi.14705Test
Epilepsia, Vol. 60, No 5 (2019) pp. 830-844

مصطلحات موضوعية: 0301 basic medicine, Proband, Pediatrics, Movement disorders, PHENOTYPIC SPECTRUM, NA(V)1.6, DE-NOVO, Cognitive Dysfunction/genetics, Severity of Illness Index, 3124 Neurology and psychiatry, Epilepsy, 0302 clinical medicine, voltage-gated sodium channel, Intellectual disability, voltage-gated sodium channels, Child, epilepsy, epilepsy genetics, intellectual disability, SCN8A, ddc:618, Movement Disorders, Anticonvulsants/therapeutic use, High-Throughput Nucleotide Sequencing, Electroencephalography, ENCEPHALOPATHY, NAV1.6 Voltage-Gated Sodium Channel/genetics, Hypotonia, Pedigree, FAMILY, Neurology, Ataxia/genetics, Child, Preschool, Cohort, Muscle Hypotonia, Anticonvulsants, medicine.symptom, medicine.medical_specialty, Ataxia, Mutation, Missense, PATIENT, 03 medical and health sciences, PURKINJE NEURONS, medicine, epilepsy genetic, Humans, SODIUM-CHANNEL SCN8A, Cognitive Dysfunction, Language Development Disorders, Ictal, Genetic Testing, Preschool, Muscle Hypotonia/genetics, business.industry, MUTATIONS, 3112 Neurosciences, Infant, medicine.disease, Intellectual Disability/genetics, Epilepsy/drug therapy/genetics/physiopathology, 030104 developmental biology, nervous system, NAV1.6 Voltage-Gated Sodium Channel, Language Development Disorders/genetics, Mutation, Movement Disorders/genetics, Neurology (clinical), Missense, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c83a64bd8cdd1d1626fc9ab3fb373950Test
http://hdl.handle.net/10138/312952Test