Allan Bayat

Search results

• 2024

  Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy

  Riva, A., D'Onofrio, G., Pisati, A., Roberti, R., Amadori, E., Bosch, F., de Souza, C. F. M., Thomas, A., Russo, E., Striano, P. & Bayat, A., Aug 2024, In: Cannabis and Cannabinoid Research. 9, 4, p. 990-995

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Glycosylphosphatidylinositol 100%
  • Drug Resistant Epilepsy 100%
  • Cannabidiol 100%
  • Epileptic Seizure 50%
  • Adverse Event 33%

• Clinical and molecular characterization of patients with YWHAG-related epilepsy

  The YWHAG Study Group, May 2024, In: Epilepsia. 65, 5, p. 1439-1450

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Missense 100%
  • Intellectual Disability 100%
  • Allele 50%
  • Molecular Genetics 50%
  • Ligand Binding Domain 50%

• Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

  Cuccurullo, C., Cerulli Irelli, E., Ugga, L., Riva, A., D'Amico, A., Cabet, S., Lesca, G., Bilo, L., Zara, F., Iliescu, C., Barca, D., Fung, F., Helbig, K., Ortiz-Gonzalez, X., Schelhaas, H. J., Willemsen, M. H., van der Linden, I., Canafoglia, L., Courage, C. & Gommaraschi, S. & 49 others, Gonzalez-Alegre, P., Bardakjian, T., Syrbe, S., Schuler, E., Lemke, J. R., Vari, S., Roende, G., Bak, M., Huq, M., Powis, Z., Johannesen, K. M., Hammer, T. B., Møller, R. S., Rabin, R., Pappas, J., Zupanc, M. L., Zadeh, N., Cohen, J., Naidu, S., Krey, I., Saneto, R., Thies, J., Licchetta, L., Tinuper, P., Bisulli, F., Minardi, R., Bayat, A., Villeneuve, N., Molinari, F., Salimi Dafsari, H., Moller, B., Le Roux, M., Houdayer, C., Vecchi, M., Mammi, I., Fiorini, E., Proietti, J., Ferri, S., Cantalupo, G., Battaglia, D. I., Gambardella, M. L., Contaldo, I., Brogna, C., Trivisano, M., De Dominicis, A., Bova, S. M., Gardella, E., Striano, P. & Coppola, A., Sept 2024, In: Epilepsia. 65, 9, p. 2728-2750

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Clinical Feature 100%
  • Patient with Epilepsy 100%
  • Epileptic Spasms 100%
  • Genetic Generalized Epilepsy 100%
  • Myoclonic Epilepsy 100%

• Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy

  Moya Quiros, V., Adham, A., Convers, P., Lesca, G., Mauguiere, F., Soulier, H., Arzimanoglou, A., Bayat, A., Braakman, H., Camdessanche, J. P., Casenave, P., Chaton, L., Chaix, Y., Chochoi, M., Depienne, C., Desportes, V., De Ridder, J., Dinkelacker, V., Gardella, E. & Kluger, G. J. & 11 others, Jung, J., Lemesle Martin, M., Mancardi, M. M., Mueller, M., Poulat, A. L., Platzer, K., Roubertie, A., Stokman, M. F., Vulto-van Silfhout, A. T., Wiegand, G. & Mazzola, L., 23. Aug 2024, (E-pub ahead of print) In: Annals of Neurology.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  • Synapsin I 100%
  • Functional Connectivity 100%
  • Ictal 28%
  • Epileptic Seizure 14%
  • Artificial Neural Network 14%

• Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

  Rinaldi, B., Bayat, A., Zachariassen, L. G., Sun, J.-H., Ge, Y.-H., Zhao, D., Bonde, K., Madsen, L. H., Awad, I. A. A., Bagiran, D., Sbeih, A., Shah, S. M., El-Sayed, S., Lyngby, S. M., Pedersen, M. G., Stenum-Berg, C., Walker, L. C., Krey, I., Delahaye-Duriez, A. & Emrick, L. T. & 67 others, Sully, K., Murali, C. N., Burrage, L. C., Plaud Gonzalez, J. A., Parnes, M., Friedman, J., Isidor, B., Lefranc, J., Redon, S., Heron, D., Mignot, C., Keren, B., Fradin, M., Dubourg, C., Mercier, S., Besnard, T., Cogne, B., Deb, W., Rivier, C., Milani, D., Bedeschi, M. F., Di Napoli, C., Grilli, F., Marchisio, P., Koudijs, S., Veenma, D., Argilli, E., Lynch, S. A., Au, P. Y. B., Ayala Valenzuela, F. E., Brown, C., Masser-Frye, D., Jones, M., Patron Romero, L., Li, W. L., Thorpe, E., Hecher, L., Johannsen, J., Denecke, J., McNiven, V., Szuto, A., Wakeling, E., Cruz, V., Sency, V., Wang, H., Piard, J., Kortüm, F., Herget, T., Bierhals, T., Condell, A., Zeev, B. B., Kaur, S., Christodoulou, J., Piton, A., Zweier, C., Kraus, C., Micalizzi, A., Trivisano, M., Specchio, N., Lesca, G., Møller, R. S., Tümer, Z., Musgaard, M., Gerard, B., Lemke, J. R., Shi, Y. S. & Kristensen, A. S., 1. May 2024, In: Brain : a journal of neurology. 147, 5, p. 1837-1855

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Epileptic Seizure 100%
  • GRIA3 100%
  • Receptor 100%
  • Disease 80%
  • Clinical Feature 66%

• Growth charts in DYRK1A syndrome

  Lanvin, P. L., Goronflot, T., Isidor, B., Nizon, M., Durand, B., El Chehadeh, S., Geneviève, D., Ruault, V., Fradin, M., Pasquier, L., Thévenon, J., Delobel, B., Burglen, L., Afenjar, A., Faivre, L., Francannet, C., Guerrot, A. M., Goldenberg, A., Mercier, S. & Héron, D. & 10 others, Lehalle, D., Mignot, C., Marey, I., Charles, P., Moutton, S., Bézieau, S., Bayat, A., Piton, A., Willems, M. & Vincent, M., Jan 2024, In: American Journal of Medical Genetics, Part A. 194, 1, p. 9-16

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Growth Parameter 100%
  • Body Mass 100%
  • Scientific Literature 100%
  • Growth Curve 100%
  • Syndrome 100%
  3 Downloads (Pure)

• Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

  Houdayer, C., Phillips, A. M., Chabbert, M., Bourreau, J., Maroofian, R., Houlden, H., Richards, K., Saadi, N. W., Dad'ová, E., Van Bogaert, P., Rupin, M., Keren, B., Charles, P., Smol, T., Riquet, A., Pais, L., O'Donnell-Luria, A., VanNoy, G. E., Bayat, A. & Møller, R. S. & 33 others, Olofsson, K., Abou Jamra, R., Syrbe, S., Dasouki, M., Seaver, L. H., Sullivan, J. A., Shashi, V., Alkuraya, F. S., Poss, A. F., Spence, J. E., Schnur, R. E., Forster, I. C., Mckenzie, C. E., Simons, C., Wang, M., Snell, P., Kothur, K., Buckley, M., Roscioli, T., Elserafy, N., Dauriat, B., Procaccio, V., Henrion, D., Lenaers, G., Colin, E., Verbeek, N. E., Van Gassen, K. L., Legendre, C., Bonneau, D., Reid, C. A., Howell, K. B., Ziegler, A. & Legros, C., 22. Mar 2024, In: medRxiv : the preprint server for health sciences.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Intellectual Disability 100%
  • Missense 66%
  • Amino Acids 33%
  • Molecular Interaction 33%
  • Confocal Microscopy 33%

• Natural history of adults with KBG syndrome: A physician-reported experience

  Bayat, A., Grimes, H., de Boer, E., Herlin, M. K., Dahl, R. S., Lund, I. C. B., Bayat, M., Bolund, A. C. S., Gjerulfsen, C. E., Gregersen, P. A., Zilmer, M., Juhl, S., Cebula, K., Rahikkala, E., Maystadt, I., Peron, A., Vignoli, A., Alfano, R. M., Stanzial, F. & Benedicenti, F. & 15 others, Currò, A., Luk, H. M., Jouret, G., Zurita, E., Heuft, L., Schnabel, F., Busche, A., Veenstra-Knol, H. E., Tkemaladze, T., Vrielynck, P., Lederer, D., Platzer, K., Ockeloen, C. W., Goel, H. & Low, K. J., Aug 2024, In: Genetics in Medicine. 26, 8, 13 p., 101170.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Epileptic Seizure 100%
  • Comorbidity 100%
  • Clinical Feature 50%
  • Treatment Response 50%
  • Seizure Types 50%

• Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment

  Bayat, A., Iavarone, S., Miceli, F., Jakobsen, A. V., Johannesen, K. M., Nikanorova, M., Ploski, R., Szymanska, K., Flamini, R., Cooper, E. C., Weckhuysen, S., Taglialatela, M. & Møller, R. S., Jan 2024, In: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 21, 1, 9 p., e00296.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Whole Cell Patch Clamp 100%
  • Channel Blocker 100%
  • Locomotion 100%
  • Chinese Hamster 100%
  • Current Density 100%
  25 Downloads (Pure)

• POLG-related mitochondrial disease mimicking autoimmune encephalitis

  Bayat, M., Harbo, T., Anzabi, M., Bayat, A. & Thomsen, J. L. S., Oct 2024, In: Journal of Neurology. 271, p. 7021-7023

  Research output: Contribution to journal › Comment/debate › Research › peer-review

• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

  Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., Aznar-Laín, G., Aneja, A., Hancarova, M., Bendova, S., Schwarz, M., Pourova, R. K., Sedlacek, Z., Keena, B. A., March, M. E. & Hou, C. & 133 others, O’Connor, N., Bhoj, E. J., Harr, M. H., Lemire, G., Boycott, K. M., Towne, M., Li, M., Tarnopolsky, M., Brady, L., Parker, M. J., Faghfoury, H., Parsley, L. K., Agolini, E., Dentici, M. L., Novelli, A., Wright, M., Palmquist, R., Lai, K., Scala, M., Striano, P., Iacomino, M., Zara, F., Cooper, A., Maarup, T. J., Byler, M., Lebel, R. R., Balci, T. B., Louie, R., Lyons, M., Douglas, J., Nowak, C., Afenjar, A., Hoyer, J., Keren, B., Maas, S. M., Motazacker, M. M., Martinez-Agosto, J. A., Rabani, A. M., McCormick, E. M., Falk, M. J., Ruggiero, S. M., Helbig, I., Møller, R. S., Tessarollo, L., Ardori, F. T., Palko, M. E., Hsieh, T. C., Krawitz, P. M., Ganapathi, M., Gelb, B. D., Jobanputra, V., Wilson, A., Greally, J., Jacquemont, S., Jizi, K., Bruel, A. L., Quelin, C., Misra, V. K., Chick, E., Romano, C., Greco, D., Arena, A., Morleo, M., Nigro, V., Seyama, R., Uchiyama, Y., Matsumoto, N., Taira, R., Tashiro, K., Sakai, Y., Yigit, G., Wollnik, B., Wagner, M., Kutsche, B., Hurst, A. C. E., Thompson, M. L., Schmidt, R., Randolph, L., Spillmann, R. C., Shashi, V., Higginbotham, E. J., Cordeiro, D., Carnevale, A., Costain, G., Khan, T., Funalot, B., Mau-Them, F. T., Garcia Moya, L. F., García-Miñaúr, S., Osmond, M., Chad, L., Quercia, N., Carrasco, D., Li, C., Sanchez-Valle, A., Kelley, M., Nizon, M., Jensson, B. O., Sulem, P., Stefansson, K., Gorokhova, S., Busa, T., Rio, M., Habdallah, H. H., Lesieur-Sebellin, M., Amiel, J., Pingault, V., Mercier, S., Vincent, M., Philippe, C., Fatus-Fauconnier, C., Friend, K., Halligan, R. K., Biswas, S., Rosser, J., Shoubridge, C., Corbett, M., Barnett, C., Gecz, J., Leppig, K., Slavotinek, A., Marcelis, C., Pfundt, R., de Vries, B. B. A., van Slegtenhorst, M. A., Brooks, A. S., Cogne, B., Rambaud, T., Tümer, Z., Zackai, E. H., Akizu, N., Song, Y. & Hakonarson, H., Jan 2024, In: Journal of Clinical Investigation. 134, 1, 17 p., e171235.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Missense 100%
  • Splicing Factor 100%
  • Spliceosome 100%
  • Genetics 50%
  • Wild Type 50%
  4 Downloads (Pure)

• Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant

  Tvergaard, N. K., Tkemaladze, T., Stödberg, T., Kvarnung, M., Tatton-Brown, K., Baralle, D., Tümer, Z. & Bayat, A., Oct 2024, In: Clinical Genetics. 106, 4, p. 427-436

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Disease 100%
  • Receptor 100%
  • Propionic Acid 100%
  • GRIA1 100%
  • Isoxazole 100%
  2 Downloads (Pure)

• Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

  Schedl, T., Freson, K., Mumford, A., Turro, E., Schlein, C., Shashi, V., Kreienkamp, H.-J. & Undiagnosed Diseases Network, 10. Sept 2024, In: Nature Communications. 15, 18 p., 7909.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • PDZ Domain 100%
  • Intellectual Disability 100%
  • Leucine-Rich Repeat 100%
  • Eating Behavior 100%
  • Leucine 100%
  5 Downloads (Pure)
• 2023

  Adult Phenotype of SYNGAP1-DEE

  Rong, M., Benke, T., Ali, Q. Z., Aledo-Serrano, Á., Bayat, A., Rossi, A., Devinsky, O., Qaiser, F., Ali, A. S., Fasano, A., Bassett, A. S. & Andrade, D. M., 2023, In: Neurology: Genetics. 9, 6, p. e200105

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File
  23 Downloads (Pure)

• AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders

  Lewis, S. A., Bakhtiari, S., Forstrom, J., Bayat, A., Bilan, F., Le Guyader, G., Alkhunaizi, E., Vernon, H., Padilla-Lopez, S. R. & Kruer, M. C., 26. Sept 2023, In: Disease Models & Mechanisms. 16, 9, 11 p., dmm049838.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Axon 100%
  • Cerebral Palsy 100%
  • Heat Shock Protein 100%
  • Hypotonia 100%
  • Dystonia 100%
  32 Downloads (Pure)

• A new neurodevelopmental disorder linked to heterozygous variants in UNC79

  Bayat, A., Liu, Z., Luo, S., Fenger, C. D., Hojte, A. F., Isidor, B., Cogne, B., Larson, A., Zanus, C., Flavio, F., Keren, B., Musante, L., Gourfinkel-An, I., Perrine, C., Demily, C., Lesca, G., Liao, W. & Ren, D., Sept 2023, In: Genetics in Medicine. 25, 9, 13 p., 100894.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Wild Type 100%
  • Body Weight 100%
  • Intellectual Disability 100%
  • Cognitive Development 100%
  • Genetic Manipulation 100%

• An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal

  Omelková, M., Fenger, C. D., Murray, M., Hammer, T. B., Pravata, V. M., Bartual, S. G., Czajewski, I., Bayat, A., Ferenbach, A. T., Stavridis, M. P. & van Aalten, D. M. F., Jun 2023, In: DMM Disease Models and Mechanisms. 16, 6, 13 p., dmm049132.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Transferase 100%
  • Intellectual Disability 100%
  • Stem Cell Self-Renewal 100%
  • Pluripotent Stem Cell 100%
  • Glycosylation 50%
  13 Downloads (Pure)

• Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

  Loong, L., Tardivo, A., Knaus, A., Hashim, M., Pagnamenta, A. T., Alt, K., Böhrer-Rabel, H., Caro-Llopis, A., Cole, T., Distelmaier, F., Edery, P., Ferreira, C. R., Jezela-Stanek, A., Kerr, B., Kluger, G., Krawitz, P. M., Kuhn, M., Lemke, J. R., Lesca, G. & Lynch, S. A. & 24 others, Martinez, F., Maxton, C., Mierzewska, H., Monfort, S., Nicolai, J., Orellana, C., Pal, D. K., Płoski, R., Quarrell, O. W., Rosello, M., Rydzanicz, M., Sabir, A., Śmigiel, R., Stegmann, A. P. A., Stewart, H., Stumpel, C., Szczepanik, E., Tzschach, A., Wolfe, L., Taylor, J. C., Murakami, Y., Kinoshita, T., Bayat, A. & Kini, U., Jan 2023, In: Genetics in Medicine. 25, 1, p. 37-48

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Congenital Malformation 100%
  • Epileptic Seizure 100%
  • Hypotonia 100%
  • Genotyping 100%
  • Missense 100%

• Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome

  Ramond, F., Dalgliesh, C., Grimmel, M., Wechsberg, O., Vetro, A., Guerrini, R., FitzPatrick, D., Poole, R. L., Lebrun, M., Bayat, A., Grasshoff, U., Bertrand, M., Witt, D., Turnpenny, P. D., Faundes, V., Santa María, L., Mendoza Fuentes, C., Mabe, P., Hussain, S. A. & Mullegama, S. V. & 11 others, Torti, E., Oehl-Jaschkowitz, B., Salmon, L. B., Orenstein, N., Shahar, N. R., Hagari, O., Bazak, L., Hoffjan, S., Prada, C. E., Haack, T. & Elliott, D. J., Apr 2023, In: Genetics in Medicine. 25, 4, 12 p., 100003.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Isoform 100%
  • Coding Region 100%
  • Exon 50%
  • Germline 50%
  • Germ Cell 50%
  61 Downloads (Pure)

• CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online

  Macnee, M., Pérez-Palma, E., Brünger, T., Klöckner, C., Platzer, K., Stefanski, A., Montanucci, L., Bayat, A., Radtke, M., Collins, R. L., Talkowski, M., Blankenberg, D., Møller, R. S., Lemke, J. R., Nothnagel, M., May, P. & Lal, D., 4. May 2023, In: Bioinformatics. 39, 5, 6 p., btad290.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Clinical Trial 100%
  • Genotyping 100%
  • Human Genome 100%
  • Decision Making 100%
  • Genomics 100%
  52 Downloads (Pure)

• Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: A study of 53 patients and review of the literature

  Peluso, F., Caraffi, S. G., Contro& amp; grave;, G., Valeri, L., Napoli, M., Carboni, G., Seth, A., Zuntini, R., Coccia, E., Astrea, G., Bisgaard, A. M., Ivanovski, I., Maitz, S., Brischoux-Boucher, E., Carter, M. T., Dentici, M. L., Devriendt, K., Bellini, M., Digilio, M. C. & Doja, A. & 45 others, Dyment, D. A., Farholt, S., Ferreira, C. R., Wolfe, L. A., Gahl, W. A., Gnazzo, M., Goel, H., Grønborg, S. W., Hammer, T., Iughetti, L., Kleefstra, T., Koolen, D. A., Lepri, F. R., Lemire, G., Louro, P., McCullagh, G., Madeo, S. F., Milone, A., Milone, R., Nielsen, J. E. K., Novelli, A., Ockeloen, C. W., Pascarella, R., Pippucci, T., Ricca, I., Robertson, S. P., Sawyer, S., Falkenberg Smeland, M., Stegmann, S., Stumpel, C. T., Goel, A., Taylor, J. M., Barbuti, D., Soresina, A., Bedeschi, M. F., Battini, R., Cavalli, A., Fusco, C., Iascone, M., Van Maldergem, L., Venkateswaran, S., Zuffardi, O., Vergano, S., Garavelli, L. & Bayat, A., Dec 2023, In: Journal of Medical Genetics. 60, 12, p. 1224-1234

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Central Nervous System 100%
  • Skeleton Malformation 50%
  • Bone Development 25%
  • Congenital Malformation 25%
  • Prevalence 25%
  17 Downloads (Pure)

• Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

  Buijsse, N., Jansen, F. E., Ockeloen, C. W., van Kempen, M. J. A., Zeidler, S., Willemsen, M. H., Scarano, E., Monticone, S., Zonneveld-Huijssoon, E., Low, K. J., Bayat, A., Sisodiya, S. M., Samanta, D., Lesca, G., de Jong, D., Giltay, J. C., Verbeek, N. E., Kleefstra, T., Brilstra, E. H. & Vlaskamp, D. R. M., Dec 2023, In: Epilepsia Open. 8, 4, p. 1300-1313

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Antiseizure Medication 100%
  • Anti-Seizure Medication 100%
  • Epileptic Seizure 100%
  • Drug Therapy 33%
  • Clinician 33%
  38 Downloads (Pure)

• Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder

  Alvarez, C., Grimmel, M., Ebrahimi-Fakhari, D., Paul, V. G., Deininger, N., Riess, A., Haack, T., Gardella, E., Møller, R. S. & Bayat, A., May 2023, In: Clinical Genetics. 103, 5, p. 566-573

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Autosomal Recessive Inheritance 100%
  • Infancy 100%
  • Intellectual Disability 100%
  • Ataxia 100%
  • Stereotypic Movement Disorder 33%
  47 Downloads (Pure)

• Genetisk udredning ved autismespektrumforstyrrelse

  Translated title of the contribution: Genetic testing in autism spectrum disorderMajgaard Jensen, J., Schierup Nielsen, U., Bayat, A., Bøgehus Rasmussen, M., Møller, R. S., Bisgaard, A.-M. & Hammer, T. B., Jan 2023, In: Ugeskrift for Læger. 185, 1, V04220253.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Pervasive Developmental Disorder 100%
  • Genetic Screening 100%
  • Genetics 33%
  • Genomics 33%
  • Polygenic Score 33%
  10 Downloads (Pure)

• GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

  Bayat, A., Lindau, T., Aledo-Serrano, A., Gil-Nagel, A., Barić, I., Bartoniček, D., Mateševac, J., Ramadža, D. P., Žigman, T., Pušeljić, S., Dorner, S., Bupp, C., Devries, S. & Møller, R. S., Nov 2023, In: Clinical Genetics. 104, 5, p. 598-603

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Disease 100%
  • Myocardial Disease 100%
  • Glycosylphosphatidylinositol 100%
  • PIGA 25%
  • Brain Disease 20%
  27 Downloads (Pure)

• KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties

  Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B., Koch, J., Strehlow, V., Shirai, K., Matsumoto, N., Sanders, S. J., Michaud, V., Legendre, M., Riva, A., Striano, P., Muhle, H., Pendziwiat, M., Lesca, G., Mangano, G. D. & Nardello, R. & 6 others, KCNT2-study group, Lemke, J. R., Møller, R. S., Soldovieri, M. V., Rubboli, G. & Taglialatela, M., Aug 2023, In: Annals of Neurology. 94, 2, p. 332-349

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Genetics 100%
  • Amino Acids 100%
  • Missense 100%
  • Whole Cell 100%
  • Exome Sequencing 100%
  48 Downloads (Pure)

• Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

  Happ, H. C., Sadleir, L. G., Zemel, M., de Valles-Ibáñez, G., Hildebrand, M. S., McConkie-Rosell, A., McDonald, M., May, H., Sands, T., Aggarwal, V., Elder, C., Feyma, T., Bayat, A., Møller, R. S., Fenger, C. D., Klint Nielsen, J. E., Datta, A. N., Gorman, K. M., King, M. D. & Linhares, N. D. & 35 others, Burton, B. K., Paras, A., Ellard, S., Rankin, J., Shukla, A., Majethia, P., Olson, R. J., Muthusamy, K., Schimmenti, L. A., Starnes, K., Sedláčková, L., Štěrbová, K., Vlčková, M., Laššuthová, P., Jahodová, A., Porter, B. E., Couque, N., Colin, E., Prouteau, C., Collet, C., Smol, T., Caumes, R., Vansenne, F., Bisulli, F., Licchetta, L., Person, R., Torti, E., McWalter, K., Webster, R., Gerard, E. E., Lesca, G., Szepetowski, P., Scheffer, I. E., Mefford, H. C. & Carvill, G. L., 7. Feb 2023, In: Neurology. 100, 6, p. e603-e615

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  • Seizure Types 100%
  • Missense 100%
  • Electric Potential 100%
  • Generalised Epilepsy 50%
  • Electroencephalography 50%

• Perampanel as precision therapy in rare genetic epilepsies

  Nissenkorn, A., Kluger, G., Schubert-Bast, S., Bayat, A., Bobylova, M., Bonanni, P., Ceulemans, B., Coppola, A., Di Bonaventura, C., Feucht, M., Fuchs, A., Gröppel, G., Heimer, G., Herdt, B., Kulikova, S., Mukhin, K., Nicassio, S., Orsini, A., Panagiotou, M. & Pringsheim, M. & 14 others, Puest, B., Pylaeva, O., Ramantani, G., Tsekoura, M., Ricciardelli, P., Lerman Sagie, T., Stark, B., Striano, P., van Baalen, A., De Wachter, M., Cerulli Irelli, E., Cuccurullo, C., von Stülpnagel, C. & Russo, A., Apr 2023, In: Epilepsia. 64, 4, p. 866-874

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Epileptic Seizure 100%
  • Perampanel 100%
  • Glutamate Receptor 28%
  • Pediatrics 14%
  • Combination Therapy 14%
  40 Downloads (Pure)

• Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo ¹H-NMR Analysis

  Cannet, C., Bayat, A., Frauendienst-Egger, G., Freisinger, P., Spraul, M., Himmelreich, N., Kockaya, M., Ahring, K., Godejohann, M., MacDonald, A. & Trefz, F., Jul 2023, In: Molecules. 28, 13, 19 p., 4916.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Genotyping 100%
  • Metabolite 100%
  • Metabolomics 100%
  • Phenylketonuria 100%
  • Phenylalanine 71%
  6 Downloads (Pure)

• POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

  Rossi, A., Blok, L. S., Neuser, S., Klöckner, C., Platzer, K., Faivre, L. O., Weigand, H., Dentici, M. L., Tartaglia, M., Niceta, M., Alfieri, P., Srivastava, S., Coulter, D., Smith, L., Vinorum, K., Cappuccio, G., Brunetti-Pierri, N., Torun, D., Arslan, M. & Lauridsen, M. F. & 23 others, Murch, O., Irving, R., Lynch, S. A., Mehta, S. G., Carmichael, J., Zonneveld-Huijssoon, E., de Vries, B., Kleefstra, T., Johannesen, K. M., Westphall, I. T., Hughes, S. S., Smithson, S., Evans, J., Dudding-Byth, T., Simon, M., van Binsbergen, E., Herkert, J. C., Beunders, G., Oppermann, H., Bakal, M., Møller, R. S., Rubboli, G. & Bayat, A., Aug 2023, In: Clinical Genetics. 104, 2, p. 186-197

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Comorbidity 100%
  • Genetics 66%
  • Missense 66%
  • Exome Sequencing 66%
  • DNA Binding 33%
  4 Downloads (Pure)

• Solving the unsolved genetic epilepsies: Current and future perspectives

  Johannesen, K. M., Tümer, Z., Weckhuysen, S., Barakat, T. S. & Bayat, A., Dec 2023, In: Epilepsia. 64, 12, p. 3143-3154

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Genetics 100%
  • Exome 100%
  • Somatics 100%
  • Mosaicism 100%
  • Genome Sequencing 75%
  29 Downloads (Pure)

• Unveiling the hidden: revisiting the potential of old genetic data for rare disease research

  Bayat, A., Oct 2023, In: European Journal of Human Genetics. 31, p. 1093-1094

  Research output: Contribution to journal › Comment/debate › Research › peer-review

• X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

  Kolvenbach, C. M., Felger, T., Schierbaum, L., Thiffault, I., Pastinen, T., Szczepańska, M., Zaniew, M., Adamczyk, P., Bayat, A., Yilmaz, Ö., Lindenberg, T. T., Thiele, H., Hildebrandt, F., Hinderhofer, K., Moog, U., Hilger, A. C., Sullivan, B., Bartik, L., Gnyś, P. & Grote, P. & 3 others, Odermatt, B., Reutter, H. M. & Dworschak, G. C., 22. May 2023, In: Journal of Medical Genetics. 60, 6, p. 587-596

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Zebra Fish 100%
  • Copy-Number Variation 80%
  • Single-Nucleotide Polymorphism 60%
  • Morpholino 40%
  • Wild Type 20%
  22 Downloads (Pure)
• 2022

  ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

  Vitobello, A., Mazel, B., Lelianova, V. G., Zangrandi, A., Petitto, E., Suckling, J., Salpietro, V., Meyer, R., Elbracht, M., Kurth, I., Eggermann, T., Benlaouer, O., Lall, G., Tonevitsky, A. G., Scott, D. A., Chan, K. M., Rosenfeld, J. A., Nambot, S., Safraou, H. & Bruel, A. L. & 20 others, Denommé-Pichon, A. S., Tran Mau-Them, F., Philippe, C., Duffourd, Y., Guo, H., Petersen, A. K., Granger, L., Crunk, A., Bayat, A., Striano, P., Zara, F., Scala, M., Thomas, Q., Delahaye, A., de Sainte Agathe, J. M., Buratti, J., Kozlov, S. V., Faivre, L., Thauvin-Robinet, C. & Ushkaryov, Y., 4. Aug 2022, In: American Journal of Human Genetics. 109, 8, p. 1436-1457

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  • Behavior (Neuroscience) 100%
  • Haploinsufficiency 100%
  • In Vitro 66%
  • Glutamic Acid 33%
  • In Vivo 33%

• Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

  Hamanaka, K., Miyoshi, K., Sun, J. H., Hamada, K., Komatsubara, T., Saida, K., Tsuchida, N., Uchiyama, Y., Fujita, A., Mizuguchi, T., Gerard, B., Bayat, A., Rinaldi, B., Kato, M., Tohyama, J., Ogata, K., Shi, Y. S., Saito, K., Miyatake, S. & Matsumoto, N., Feb 2022, In: Human Genetics. 141, p. 283-293

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Disease 100%
  • Carbamazepine 100%
  • Neurodevelopmental Disorder 100%
  • GRIA3 100%
  • Synaptic Transmission 100%

• Anakinra and tocilizumab in the chronic phase of febrile infection-related epilepsy syndrome (FIRES): Effectiveness and safety from a case-series

  Aledo-Serrano, A., Hariramani, R., Gonzalez-Martinez, A., Álvarez-Troncoso, J., Toledano, R., Bayat, A., Garcia-Morales, I., Becerra, J. L., Villegas-Martínez, I., Beltran-Corbellini, A. & Gil-Nagel, A., Aug 2022, In: Seizure. 100, p. 51-55

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Syndrome 100%
  • Infection 100%
  • Tocilizumab 100%
  • Anakinra 100%
  • Adverse Event 33%

• Atypical painful stroke presentations: A review

  Bayat, M., Bayat, A. & Blauenfeldt, R. A., Nov 2022, In: Acta Neurologica Scandinavica. 146, 5, p. 465-474

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Apoplexy 100%
  • Sensation 14%
  • Subarachnoid Hemorrhage 14%
  • Thermal Burn 14%
  • Pain 14%
  52 Downloads (Pure)

• Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

  Rinaldi, B., Ge, Y. H., Freri, E., Tucci, A., Granata, T., Estienne, M., Sun, J. H., Gérard, B., Bayat, A., Efthymiou, S., Gervasini, C., Shi, Y. S., Houlden, H., Marchisio, P. & Milani, D., Jan 2022, In: Neurogenetics. 23, 1 p., 81.

  Research output: Contribution to journal › Comment/debate › Research › peer-review

  Open Access

  File

  • Status Epilepticus 100%
  • Cerebellum Hypoplasia 100%
  • GRIA3 100%
  • Hypoplasia 100%
  • Epileptic State 100%
  15 Downloads (Pure)

• Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human

  Peng, S. X., Pei, J., Rinaldi, B., Chen, J., Ge, Y. H., Jia, M., Wang, J., Delahaye-Duriez, A., Sun, J. H., Zang, Y. Y., Shi, Y. Y., Zhang, N., Gao, X., Milani, D., Xu, X., Sheng, N., Gerard, B., Zhang, C., Bayat, A. & Liu, N. & 2 others, Yang, J. J. & Shi, Y. S., Oct 2022, In: Molecular Psychiatry. 27, p. 4092–4102

  Research output: Contribution to journal › Journal article › Research › peer-review

  • AMPA Receptor 100%
  • Aggression 100%
  • Prefrontal Cortex 60%
  • Knockout Mouse 40%
  • GRIA3 40%

• Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes

  Neri, S., Maia, N., Fortuna, A. M., Damasio, J., Coale, E., Willis, M., Jorge, P., Højte, A. F., Fenger, C. D., Møller, R. S. & Bayat, A., Nov 2022, In: European Journal of Medical Genetics. 65, 11, 7 p., 104624.

  Research output: Contribution to journal › Journal article › Research › peer-review

  • First Trimester Pregnancy 100%
  • Molecular Diagnosis 100%
  • Counseling 100%
  • Developmental Delay 100%
  • Autosomal Recessive Inheritance 100%

• Genetic factors provide individualised targeted treatment of epilepsy

  Johannesen, K. M., Bayat, A., Hammer, T. B. & Møller, R. S., 27. Jun 2022, In: Ugeskrift for Laeger. 184, 26

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Heredity 100%
  • Epileptic Seizure 100%
  • Targeted Therapy 100%
  • Treatment of Epilepsy 100%
  • Genetics 100%

• Genetikken fremmer individualiseret behandling af epilepsi

  Translated title of the contribution: Genetic factors provide individualised targeted treatment of epilepsyJohannesen, K. M. H., Bayat, A., Hammer, T. B. & Møller, R. S., 27. Jun 2022, In: Ugeskrift for Læger. 184, 13, V02220122.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Heredity 100%
  • Epileptic Seizure 100%
  • Targeted Therapy 100%
  • Treatment of Epilepsy 100%
  • Genetics 100%
  4 Downloads (Pure)

• Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

  Ismail, V., Zachariassen, L. G., Godwin, A., Sahakian, M., Ellard, S., Stals, K. L., Baple, E., Brown, K. T., Foulds, N., Wheway, G., Parker, M. O., Lyngby, S. M., Pedersen, M. G., Desir, J., Bayat, A., Musgaard, M., Guille, M., Kristensen, A. S. & Baralle, D., 7. Jul 2022, In: American Journal of Human Genetics. 109, 7, p. 1217-1241

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Missense 100%
  • GRIA1 100%
  • AMPA Receptor 87%
  • Xenopus 25%
  • Genetics 12%
  53 Downloads (Pure)

• Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies: a Study in a Tertiary Epilepsy Center

  Bayat, A., Fenger, C. D., Techlo, T. R., Højte, A. F., Nørgaard, I., Hansen, T. F., Rubboli, G., Møller, R. S. & group, D. C. C. R. S., Jul 2022, In: Neurotherapeutics. 19, p. 1353-1367

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  • Decision-Making 100%
  • Febrile Seizure 100%
  • Single-Nucleotide Polymorphism 100%
  • Brain Injury 100%
  • Status Epilepticus 100%

• ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

  Bruel, A. L., Vitobello, A., Thiffault, I., Manwaring, L., Willing, M., Agrawal, P. B., Bayat, A., Kitzler, T. M., Brownstein, C. A., Genetti, C. A., Gonzalez-Heydrich, J., Jayakar, P., Zyskind, J. W., Zhu, Z., Vachet, C., Wilson, G. R., Pruniski, B., Goyette, A. M., Duffourd, Y. & Thauvin-Robinet, C. & 2 others, Philippe, C. & Faivre, L., Jan 2022, In: European Journal of Human Genetics. 30, p. 111-116

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  • Autosomal Dominant Inheritance 100%
  • Missense 100%
  • Candidate Gene 100%
  • Brain Development 100%
  • Intellectual Disability 100%

• Juleartikel: Genetisk udredning ved syndromale patienter – d’oh!

  Translated title of the contribution: Christmas article: Genetic analysis in syndromic patients – d'oh!Johannesen, K. M. H. & Bayat, A., 2022, In: Ugeskrift for Læger. 184, 24, p. 2352-2353 V80109.

  Research output: Contribution to journal › Journal article › Communication

  • Clinical Finding 100%
  • Clinician 100%
  • Genetic Analysis 100%
  • Genetic Screening 100%
  • Incidental Finding 100%

• KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

  Miceli, F., Millevert, C., Soldovieri, M. V., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, H. K., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D., Edery, P., de Bellescize, J., Michaud, V., Van-Gils, J., Goizet, C. & Willemsen, M. H. & 14 others, Kleefstra, T., Møller, R. S., Bayat, A., Devinsky, O., Sands, T., Korenke, G. C., Kluger, G., Mefford, H. C., Brilstra, E., Lesca, G., Milh, M., Cooper, E. C., Taglialatela, M. & Weckhuysen, S., Jul 2022, In: EBioMedicine. 81, 15 p., 104130.

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Amitriptyline 100%
  • Infantile Spasm 100%
  • Specific Language Impairment 100%
  • Language Disorders 100%
  • REM Sleep 100%
  59 Downloads (Pure)

• Monogenic epilepsies; genotype-phenotype correlations and precision therapy

  Bayat, A., 24. Jun 2022, Syddansk Universitet. Det Sundhedsvidenskabelige Fakultet. 202 p.

  Research output: Thesis › Ph.D. thesis

  Open Access

  File

  • Epileptic Seizure 100%
  • Genotype Phenotype Correlation 100%
  • Glycosylphosphatidylinositol 100%
  • Disease 90%
  • Brain Disease 80%
  59 Downloads (Pure)

• Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

  Rinaldi, B., Ge, Y. H., Freri, E., Tucci, A., Granata, T., Estienne, M., Sun, J. H., Gérard, B., Bayat, A., Efthymiou, S., Gervasini, C., Shi, Y. S., Houlden, H., Marchisio, P. & Milani, D., Jan 2022, In: Neurogenetics. 23, p. 27-35

  Research output: Contribution to journal › Journal article › Research › peer-review

  Open Access

  File

  • Status Epilepticus 100%
  • Cerebellum Hypoplasia 100%
  • GRIA3 100%
  • Hypoplasia 100%
  • Intellectual Disability 100%
  44 Downloads (Pure)

• Neurological manifestation of 22q11.2 deletion syndrome

  Bayat, M. & Bayat, A., Mar 2022, In: Neurological Sciences. 43, p. 1695-1700

  Research output: Contribution to journal › Journal article › Research › peer-review

  • Parkinson's Disease 100%
  • Generalised Epilepsy 100%
  • Neurological Disorder 100%
  • Stereotypic Movement Disorder 100%
  • Myoclonus 100%