المؤلفون: Palmer, EE, Pusch, M, Picollo, A, Forwood, C, Nguyen, MH, Suckow, V, Gibbons, J, Hoff, A, Sigfrid, L, Megarbane, A, Nizon, M, Cogné, B, Beneteau, C, Alkuraya, FS, Chedrawi, A, Hashem, MO, Stamberger, H, Weckhuysen, S, Vanlander, A, Ceulemans, B, Rajagopalan, S, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Dupuis, L, Mendoza-Londono, R, Dudding-Byth, T, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM

المصدر: urn:ISSN:1359-4184 ; urn:ISSN:1476-5578 ; Molecular Psychiatry, 28, 2, 668-697

مصطلحات موضوعية: Neurosciences, Genetics, Pediatric, Clinical Research, Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels, anzsrc-for: 06 Biological Sciences, anzsrc-for: 11 Medical and Health Sciences, anzsrc-for: 17 Psychology and Cognitive Sciences

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_85769Test; https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest; https://doi.org/10.1038/s41380-022-01852-9Test

الإتاحة: https://doi.org/10.1038/s41380-022-01852-9Test
http://hdl.handle.net/1959.4/unsworks_85769Test
https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest

المؤلفون: de Vries P. J., Belousova E., Benedik M. P., Carter T., Cottin V., Curatolo P., Dahlin M., D'Amato L., d'Augeres G. B., Ferreira J. C., Feucht M., Fladrowski C., Hertzberg C., Jozwiak S., Kingswood J. C., Lawson J. A., Macaya A., Marques R., Nabbout R., O'Callaghan F., Qin J., Sander V., Sauter M., Shah S., Takahashi Y., Touraine R., Youroukos S., Zonnenberg B., Jansen A. C. Shinohara N, Horie S, Kubota M, Tohyama J, Imai K, Kaneda M, Kaneko H, Uchida Y, Kirino T, Endo S, Inoue Y, Uruno K, Serdaroglu A, Yapici Z, Anlar B, Altunbasak S, Lvova O, Belyaev OV, Agranovich O, Levitina EV, Maksimova YV, Karas A, Jiang Y, Zou L, Xu K, Zhang Y, Luan G, Wang Y, Jin M, Ye D, Liao W, Zhou L, Liu J, Liao J, Yan B, Deng Y, Jiang L, Liu Z, Huang S, Li H, Kim K, Chen PL, Lee HF, Tsai JD, Chi CS, Huang CC, Riney K, Yates D, Kwan P, Likasitwattanakul S, Nabangchang C, Chomtho LTK, Katanyuwong K, Sriudomkajorn S, Wilmshurst J, Segel R, Gilboa T, Tzadok M, Fattal-Valevski A, Papathanasopoulos P, Papavasiliou AS, Giannakodimos S, Gatzonis S, Pavlou E, Tzoufi M, Vergeer AMH, Dhooghe M, Verhelst H, Roelens F, Nassogne MC, Defresne P, De Waele L, Leroy P, Demonceau N, Legros B, Van Bogaert P, Ceulemans B, Dom L, Castelnau P, De Saint Martin A, Riquet A, Milh M, Cances C, Pedespan JM, Ville D, Roubertie A, Auvin S, Berquin P, Richelme C, Allaire C, Gueden S, Tich SNT, Godet B, Rojas MLRF, Planas JC, Bermejo AM, Dura PS, Aparicio SR, Gonzalez MJM, Pison JL, Barca MOB, Laso EL, Luengo OA, Rodriguez FJA, Dieguez IM, Salas AC, Carrera IM, Salcedo EM, Petri MEY, Candela RC, da Conceicao Carrilho I, Vieira JP, da Silva Oliveira Monteiro JP, Santos de Oliveira Ferreira Leao MJ, Luis CSMR, Mendonca CP, Endziniene M, Strautmanis J, Talvik I, Canevini MP, Gambardella A, Pruna D, Buono S, Fontana E, Bernardina BD, Burloiu C, Cosma ISB, Vintan MA, Popescu L, Zitterbart K, Payerova J, Bratsky L, Zilinska Z, Gruber-Sedlmayr U, Baumann M, Haberlandt E, Rostasy K, Pataraia E, Elmslie F, Johnston CA, Crawford P, Uldall P, Uvebrant P, Rask O, Bjoernvold M, Brodtkorb E, Sloerdahl A, Solhoff R, Jaatun MSG, Mandera M, Radzikowska EJ, Wysocki M, Fischereder M, Kurlemann G, Wilken B, Wiemer-Kruel A, Budde K, Marquard K, Knuf M, Hahn A, Hartmann H, Merkenschlager A, Trollmann R

المساهمون: P.J. de Vrie, E. Belousova, M.P. Benedik, T. Carter, V. Cottin, P. Curatolo, M. Dahlin, L. D'Amato, G.B. D'Augere, J.C. Ferreira, M. Feucht, C. Fladrowski, C. Hertzberg, S. Jozwiak, J.C. Kingswood, J.A. Lawson, A. Macaya, R. Marque, R. Nabbout, F. O'Callaghan, J. Qin, V. Sander, M. Sauter, S. Shah, Y. Takahashi, R. Touraine, S. Yourouko, B. Zonnenberg, S.N. Jansen A. C., S. Horie, M. Kubota, J. Tohyama, K. Imai, M. Kaneda, H. Kaneko, Y. Uchida, T. Kirino, S. Endo, Y. Inoue, K. Uruno, A. Serdaroglu, Z. Yapici, B. Anlar, S. Altunbasak, O. Lvova, O. Belyaev, O. Agranovich, E. Levitina, Y. Maksimova, A. Kara, Y. Jiang, L. Zou, K. Xu, Y. Zhang, G. Luan, Y. Wang, M. Jin, D. Ye, W. Liao, L. Zhou, J. Liu, J. Liao, B. Yan, Y. Deng, L. Jiang, Z. Liu, S. Huang, H. Li, K. Kim, P. Chen, H. Lee, J. Tsai, C. Chi, C. Huang, K. Riney, D. Yate, P. Kwan, S. Likasitwattanakul, C. Nabangchang, L. Chomtho, K. Katanyuwong, S. Sriudomkajorn, J. Wilmshurst, R. Segel, T. Gilboa, M. Tzadok, A. Fattal-Valevski, P. Papathanasopoulo, A. Papavasiliou, S. Giannakodimo, S. Gatzoni, E. Pavlou, M. Tzoufi, A. Vergeer, M. Dhooghe, H. Verhelst, F. Roelen, M. Nassogne, P. Defresne

مصطلحات موضوعية: TOSCA, TSC-associated neuropsychiatric disorder, Tuberous sclerosis complex, Adolescent, Adult, Anxiety Disorder, Attention Deficit Disorder with Hyperactivity, Autism Spectrum Disorder, Child, Preschool, Depressive Disorder, Female, Genotype, Human, Intellectual Disability, Male, Mutation, Neuropsychological Test, Tuberous Sclerosi, Tuberous Sclerosis Complex 1 Protein, Tuberous Sclerosis Complex 2 Protein, Young Adult, Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30201051; info:eu-repo/semantics/altIdentifier/wos/WOS:000444266400001; volume:13; issue:1; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2434/662324Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055867151

الإتاحة: https://doi.org/10.1186/s13023-018-0901-8Test
http://hdl.handle.net/2434/662324Test

المؤلفون: Bayat, A., Valles-Ibanez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., Heron, D., Hildebrand, M.S., Jezela-Stanek, A., Jouk, P.S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J.R., Li, H., Martinez, F., Maxton, C., Mefford, H.C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L.E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E.M.C., Stegmann, A.P.A., Stumpel, C.T.

المصدر: Bayat , A , Valles-Ibanez , G , Pendziwiat , M , Knaus , A , Alt , K , Biamino , E , Bley , A , Calvert , S , Carney , P , Caro-Llopis , A , Ceulemans , B , Cousin , J , Davis , S , Portes , V , Edery , P , England , E , Ferreira , C , Freeman , J , Gener , B , Gorce , M , Heron , D , Hildebrand , M S , Jezela-Stanek , A , Jouk , P S , Keren ....

مصطلحات موضوعية: congenital disorder of glycosylation, developmental and epileptic encephalopathy, epilepsy, GPI-anchoring disorder, intellectual disability, HYPOTONIA-SEIZURES SYNDROME, CONGENITAL-ANOMALIES, PRENATAL-DIAGNOSIS, MUTATION, PHENOTYPE, PROTEINS

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0Test

الإتاحة: https://doi.org/10.1111/epi.17173Test
https://cris.maastrichtuniversity.nl/en/publications/0de515e6-beb9-44d5-98da-4fa8681f15b0Test

المؤلفون: Bonardi C. M., Heyne H. O., Fiannacca M., Fitzgerald M. P., Gardella E., Gunning B., Olofsson K., Lesca G., Verbeek N., Stamberger H., Striano P., Zara F., Mancardi M. M., Nava C., Nishizaki S., Buono S., Baulac S., Coppola A., Weckhuysen S., Schoonjans A. -S., Ceulemans B., Sarret C., Baumgartner T., Muhle H., Portes V. D., Toulouse J., Nougues M. -C., Rossi M., Demarquay G., Ville D., Hirsch E., Maurey H., Willems M., de Bellescize J., Altuzarra C. D., Villeneuve N., Bartolomei F., Picard F., Hornemann F., Koolen D. A., Kroes H. Y., Reale C., Fenger C. D., Tan W. -H., Dibbens L., Bearden D. R., Moller R. S., Rubboli G.

المساهمون: Bonardi, C. M., Heyne, H. O., Fiannacca, M., Fitzgerald, M. P., Gardella, E., Gunning, B., Olofsson, K., Lesca, G., Verbeek, N., Stamberger, H., Striano, P., Zara, F., Mancardi, M. M., Nava, C., Nishizaki, S., Buono, S., Baulac, S., Coppola, A., Weckhuysen, S., Schoonjans, A. -S., Ceulemans, B., Sarret, C., Baumgartner, T., Muhle, H., Portes, V. D., Toulouse, J., Nougues, M. -C., Rossi, M., Demarquay, G., Ville, D., Hirsch, E., Maurey, H., Willems, M., de Bellescize, J., Altuzarra, C. D., Villeneuve, N., Bartolomei, F., Picard, F., Hornemann, F., Koolen, D. A., Kroes, H. Y., Reale, C., Fenger, C. D., Tan, W. -H., Dibbens, L., Bearden, D. R., Moller, R. S., Rubboli, G.

مصطلحات موضوعية: developmental and epileptic encephalopathie, epilepsy of infancy with migrating focal seizure, epileptic encephalopathie, KCNT1, sleep-related hypermotor epilepsy, Adolescent, Child, Preschool, Cohort Studie, Epilepsy, Female, Genotype, Human, Infant, Male, Mutation, Nerve Tissue Protein, Phenotype, Potassium Channels, Sodium-Activated, Young Adult

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34114611; info:eu-repo/semantics/altIdentifier/wos/WOS:000743525200016; volume:144; firstpage:3635; lastpage:3650; numberofpages:16; journal:BRAIN; http://hdl.handle.net/11567/1083271Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85110627655

الإتاحة: https://doi.org/10.1093/brain/awab219Test
http://hdl.handle.net/11567/1083271Test

المؤلفون: Weckhuysen, S., Mandelstam, S., Suls, A., Audenaert, D., Deconinck, T., Claes, L., Deprez, L., Smets, K., Hristova, D., Yordanova, I., Jordanova, A., Ceulemans, B., Jansen, A., Hasaerts, D., Roelens, F., Lagae, L., Yendle, S., Stanley, T., Heron, S., Mulley, J.

المصدر: http://dx.doi.org/10.1002/ana.22644Test.

مصطلحات موضوعية: Humans, Epilepsy, Benign Neonatal, Phenotype, Mutation, Child, Preschool, Female, Male, KCNQ2 Potassium Channel

العلاقة: Annals of Neurology, 2012; 71(1):15-25; http://hdl.handle.net/2440/70198Test; Heron, S. [0000-0001-8759-6748]

الإتاحة: https://doi.org/10.1002/ana.22644Test
http://hdl.handle.net/2440/70198Test

المؤلفون: Baker, N., Morgelin, M., Pace, R., Peat, R., Adams, N., Gardner, R., Rowland, L., Miller, G., De Jonghe, P., Ceulemans, B., Hannibal, M., Edwards, M., Thompson, E., Jacobson, R., Quinlivan, R., Aftimos, S., Kornberg, A., North, K., Bateman, J., Lamande, S.

المصدر: http://dx.doi.org/10.1002/ana.21213Test.

مصطلحات موضوعية: Humans, Muscular Diseases, Collagen Diseases, Genetic Predisposition to Disease, Collagen Type VI, Genes, Dominant, Mutation, Polymorphism, Single Nucleotide, Adult, Middle Aged, Female, Male

العلاقة: Annals of Neurology, 2007; 62(4):390-405; http://hdl.handle.net/2440/44029Test

الإتاحة: https://doi.org/10.1002/ana.21213Test
http://hdl.handle.net/2440/44029Test

المؤلفون: Audenaert, D., CLAES, Luc, Ceulemans, B., Löfgren, A., Van Broeckhoven, C., De Jonghe, P.

مصطلحات موضوعية: NEURONAL SODIUM-CHANNEL, GENERALIZED EPILEPSY, BETA-1 SUBUNIT, MUTATION, PLUS

العلاقة: Neurology, 61(6). p. 854-856; http://hdl.handle.net/1942/5767Test; 856; 854; 61; http://www.neurology.org/cgi/content/abstract/61/6/854Test

الإتاحة: http://hdl.handle.net/1942/5767Test
http://www.neurology.org/cgi/content/abstract/61/6/854Test

المؤلفون: Claes, Lieve, Del-Favero, J, Ceulemans, B, Lagae, Lieven, Van Broeckhoven, C, De Jonghe, P

مصطلحات موضوعية: Amino Acid Sequence, Base Sequence, Belgium, Child, Preschool, Codon, Nonsense, Conserved Sequence, DNA Mutational Analysis, Epilepsies, Myoclonic, Exons, Female, Frameshift Mutation, Humans, Infant, Introns, Male, Microsatellite Repeats, Molecular Sequence Data, Mutation, Missense, Nerve Tissue Proteins, Paternity, Phenotype, Polymorphism, Restriction Fragment Length, Sodium Channels

العلاقة: American Journal of Human Genetics vol:68 issue:6 pages:1327-32; https://lirias.kuleuven.be/handle/123456789/21256Test; http://www.journals.uchicago.edu/cgi-bin/resolve?AJHG012786Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/21256Test
http://www.journals.uchicago.edu/cgi-bin/resolve?AJHG012786Test

المؤلفون: Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, Collaborators: Bassi MT, International AHC Consortium., Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, As, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, Cs, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J, Milh, M, Motte, J, Moutard, Ml, Napuri, S, Nassogne, Mc, Neau, Jp, Nicole, S, Panagiotakaki, E, Passemard, S, Pedespan, Jm, Penniello- Valette MJ, Poncelin, D, Ponsot, G, Poulat, Al, Pouplard, F, Rabilloud, M, Riant, F, Rivier, F, Roelens, P, Roubergue, A, Sanlaville, D, Tardieu, M, Veyrieres, S, de Grandis, E, Fons, C, Sisodiya, S, de Jonghe, P, Goubeau, C, van den Maagdenberg AM, Mikati, M, Scheffer, I, Nevsimalova, S, Kemlink, D, Krepelova, A, Kolnikova, M, Sykora, P, Kaski, J, Hanna, M, Houlden, H, Ulate-Campos, A, Cancho, R, Eiris, J, López-Laso, E, Velázquez, R, Carilho, I, Ozelius, L, Suls, A, Ceulemans, B, Buyse, G, di Michele, M, Ferrari, M, Peeters-Scholte, Cm.

المساهمون: Universitat de Barcelona, Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Suls, Arvid, De Jonghe, Peter, Ceulemans, Berten, Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium, UCL - (SLuc) Service de pédiatrie générale, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie

المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
Orphanet Journal of Rare Diseases, 10
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases
Orphanet journal of rare diseases, 2015, 10, pp.123
Orphanet Journal of Rare Diseases, 2015, 10, pp.123. ⟨10.1186/s13023-015-0335-5⟩
Orphanet Journal of Rare Diseases, Vol. 10, no. 1, p. 123 [1-13] (2015)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Dipòsit Digital de la UB
Universidad de Barcelona
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], medicine.disease_cause, Settore MED/03 - GENETICA MEDICA, Epilepsy, Genètica mèdica, 0302 clinical medicine, ATP1A3, inglese, Genetics(clinical), Pharmacology (medical), Young adult, Child, Genetics (clinical), Genetics, Medicine(all), 0303 health sciences, Mutation, Medical genetics, General Medicine, Middle Aged, Prognosis, 3. Good health, Child, Preschool, Alternating hemiplegia of childhood, Cohort, Hemiplègia, Female, Sodium-Potassium-Exchanging ATPase, Adult, medicine.medical_specialty, Adolescent, Hemiplegia, Biology, Genotype-phenotype, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, Preschool, Genetic Association Studies, 030304 developmental biology, Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype, Health Surveys, Infant, Research, Mutació (Biologia), Mutation (Biology), medicine.disease, Clinical trial, Human medicine, 030217 neurology & neurosurgery, Alternating hemiplegia

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36a13263008e5889413050f5bd11d69eTest
http://hdl.handle.net/2445/112025Test

المؤلفون: An-Sofie Schoonjans, Christina Fenger, Joseph Toulouse, Nathalie Villeneuve, Marie-Christine Nougues, Martina Fiannacca, Wen-Hann Tan, Rikke S. Møller, Boudewijn Gunning, Julitta de Bellescize, David Bearden, Federico Zara, Hiltrud Muhle, Gaetan Lesca, Sarah Weckhuysen, Guido Rubboli, Berten Ceulemans, Tobias Baumgartner, Frauke Hornemann, Steffen Syrbe, Leanne M. Dibbens, Hannah Stamberger, Catherine Sarret, Maria Margherita Mancardi, Edouard Hirsch, Salvatore Buono, Chiara Reale, Kern Olofsson, Elena Gardella, Claudia M Bonardi, Hélène Maurey, Henrike O. Heyne, Fabienne Picard, Stéphanie Baulac, Pasquale Striano, Geneviève Demarquay, Fabrice Bartolomei, Antonietta Coppola, Massimiliano Rossi, Vincent des Portes, Hester Y. Kroes, Mark Fitzgerald, Nienke E. Verbeek, David A. Koolen, Caroline Nava, Dorothée Ville, Marjolaine Willems, Cecilia Altuzarra

المساهمون: Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Dibbens, Leanne, Rubboli, Guido, Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Bonardi, Cm, Heyne, Ho, Fiannacca, M, Fitzgerald, Mp, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, Mm, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, Mc, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, Cd, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, Da, Kroes, Hy, Reale, C, Fenger, Cd, Tan, Wh, Dibbens, L, Bearden, Dr, Møller, R, Rubboli, G.

المصدر: Brain
Brain, 144, pp. 3635-3650
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219Test
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain, 144, 3635-3650
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩

مصطلحات موضوعية: Male, Potassium Channels, Adolescent, Genotype, KCNT1, Nerve Tissue Proteins, Potassium Channels, Sodium-Activated, Bioinformatics, Temporal lobe, Cohort Studies, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, medicine, epileptic encephalopathies, Missense mutation, Humans, Preschool, Child, 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Seizure types, business.industry, developmental and epileptic encephalopathies, epilepsy of infancy with migrating focal seizures, sleep-related hypermotor epilepsy, Child, Preschool, Female, Infant, Mutation, Phenotype, West Syndrome, medicine.disease, 3. Good health, ddc:616.8, Epileptic spasms, Cohort, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Sodium-Activated, Neurology (clinical), Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a5f969c528f80b314ded91f30e0ad4Test
https://pubmed.ncbi.nlm.nih.gov/36285205Test