Research output per year
Research output per year
Personal profile
Research Interests
My research focuses on rare monogenic neurodevelopmental disorders and epilepsy. The aim is to:
* Deep phenotype these rare genetic disorders.
* Identify genotype-phenotype correlations.
* Identify clinical biomarkars.
* Explore the natural history of these disorders in order to understand how symptoms evolve over a lifetime.
* Identidy and offer new precision therapies based on knowledge of the underlying genetic diagnosis.
* Run N-of-1 clinical drug trials with personalized medicine 💊
Education/Academic qualification
MD / pediatric neurology, PhD
Keywords
- Epilepsia
- Neurological disease
- Genetics
- Medical treatment
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Collaborations and top research areas from the last five years
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Research output
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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
Jeanne, M., Ronce, N., Remizé, S., Arpin, S., Baujat, G., Breton, S., Petit, F., Vanlerberghe, C., Coeslier-Dieux, A., Manouvrier-Hanu, S., Vincent-Delorme, C., Khau Van Kien, P., Van-Gils, J., Quélin, C., Pasquier, L., Odent, S., Demurger, F., Laffargue, F., Francannet, C. & Martin-Coignard, D. & 37 others, , 20. Mar 2025, In: Journal of Medical Genetics. 62, 4, p. 258-267Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile14 Downloads (Pure) -
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study
De Wachter, M., Millevert, C., Nicolai, J., Cats, E., Kluger, G., Milh, M., Cloarec, R., Syrbe, S., Arts, K., Jansen, K., Krygier, M., Smigiel, R., Auvin, S., Olofson, K., Gjerulfsen, C. E., Ceulemans, B., Møller, R. S., Bayat, A. & Weckhuysen, S., 17. Feb 2025, (E-pub ahead of print) In: Epilepsia.Research output: Contribution to journal › Journal article › Research › peer-review
Open Access -
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, , Jan 2025, In: Annals of Neurology. 97, 1, p. 34-50Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile1 Downloads (Pure) -
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., Mar 2025, In: Clinical Genetics. 107, 3, p. 328-334Research output: Contribution to journal › Journal article › Research › peer-review
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Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome-negative childhood onset epilepsy
Smal, N., Millevert, C., De Wachter, M., De Vriendt, E., Eddafir, Z., Schoonjans, A. S., Bayat, A., Møller, R. S., Mei, D., Balestrini, S., Guerrini, R., Meeuwissen, M. E. C., Jansen, A. C. & Weckhuysen, S., 29. Jan 2025, (E-pub ahead of print) In: Epilepsia.Research output: Contribution to journal › Journal article › Research › peer-review
Press/Media
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Forskere modtager 2,2 mio. kr til forskning i sjælden genfejl
15/10/2024
1 Media contribution
Press/Media: Press / Media
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Millionbevilling til forskning i cerebral parese
07/10/2024
1 Media contribution
Press/Media: Press / Media
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Filadelfia modtager 2 mio kr. til forskning i genetik
05/10/2024
1 Media contribution
Press/Media: Press / Media
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PRM / Filadelfia modtager 2 mio kr. til forskning i genetik
05/10/2024
1 Media contribution
Press/Media: Press / Media