Allan Bayat

2025

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., Jan 2025, In: Annals of Neurology. 97, 1, p. 34-50

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2024

Adult Phenotype of CHD2-Associated Disorders

Rong, M., Ali, Q. Z., Aledo-Serrano, A., Bayat, A., Devinsky, O., Qaiser, F., Chandran, I., Ali, A., Fasano, A., Bassett, A. S. & Andrade, D. M., Dec 2024, In: Neurology: Genetics. 10, 6, 12 p., e200194.

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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

Clinical and molecular characterization of patients with YWHAG-related epilepsy

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

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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

Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome: a Novel Cohort and Literature Review

Sjøstrøm, E., Bruel, A. L., Philippe, C., Delanne, J., Faivre, L., Menke, L. A., Au, P. Y. B., Cormick, J. J., Moosa, S. & Bayat, A., 27. Nov 2024, (E-pub ahead of print) In: Clinical Genetics.

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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

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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

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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. 43 p.

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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.

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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.

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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.

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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

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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.

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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

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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.

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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.

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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.

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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

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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.

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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.

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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

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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

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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

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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.

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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

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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

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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

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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

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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.

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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

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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

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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

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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

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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

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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

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Atypical painful stroke presentations: A review

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

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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

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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.

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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

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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.

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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

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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

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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

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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.

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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.

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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

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Neurological manifestation of 22q11.2 deletion syndrome

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

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Neurological outcome in WDR62 primary microcephaly

The MCPH Consortium, Apr 2022, In: Developmental Medicine and Child Neurology. 64, 4, p. 509-517

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Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features

Bayat, A., Krett, B., Dunø, M., Torring, P. M. & Vissing, J., Jul 2022, In: American Journal of Medical Genetics Part A. 188, 7, p. 2251-2257

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Allan Bayat

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