Weckhuysen, Sarah

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 600

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Weckhuysen, S., Mandelstam, S., Suls, A., Audenaert, D., Deconinck, T., Claes, L. R. F., Deprez, L., Smets, K., Hristova, D., Yordanova, I., et al. (2012) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 514

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 439

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Baldassari, S., Ribierre, T., Marsan, E., Adle-Biassette, H., Ferrand-Sorbets, S., Bulteau, C., Dorison, N., Fohlen, M., Polivka, M., Weckhuysen, S., et al. (2019) · Acta Neuropathologica

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 356

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Carvill, G. L., McMahon, J. M., Schneider, A., Zemel, M., Myers, C. T., Saykally, J., Nguyen, J., Robbiano, A., Zara, F., Specchio, N., et al. (2015) · The American Journal of Human Genetics

Epilepsy research and treatmentNeuroscience and Neuropharmacology Research

Cited by 227

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 219

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Lemke, J. R., Geider, K., Helbig, K. L., Heyne, H. O., Schütz, H., Hentschel, J., Courage, C., Depienne, C., Nava, C., Heron, D., et al. (2016) · Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 200

Assessing the landscape of STXBP1 -related disorders in 534 individuals

Xian, J., Parthasarathy, S., Ruggiero, S. M., Balagura, G., Fitch, E., Helbig, K., Gan, J., Ganesan, S., Kaufman, M. C., Ellis, C. A., et al. (2022) · Brain

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 130

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Martins Custodio, H., Clayton, L. M., Bellampalli, R., Pagni, S., Silvennoinen, K., Caswell, R., Genomics England Research Consortium, Ambrose, J. C., Arumugam, P., Bevers, R., et al. (2023) · Brain

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 62

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Dejanovic, B., Djémié, T., Grünewald, N., Suls, A., Kress, V., Hetsch, F., Craiu, D., Zemel, M., Gormley, P., Lal, D., et al. (2015) · EMBO Molecular Medicine

Neuroscience and Neuropharmacology ResearchEpilepsy research and treatment

Cited by 49

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

Mohammadi, N. A., Ahring, P. K., Yu Liao, V. W., Chua, H. C., Ortiz de la Rosa, S., Johannesen, K. M., Michaeli-Yossef, Y., Vincent-Devulder, A., Meridda, C., Bruel, A.-L., et al. (2024) · eBioMedicine

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 27

Head stereotypies in STXBP 1 encephalopathy

Kim, Y. O., Korff, C. M., Villaluz, M. M. G., Suls, A., Weckhuysen, S., De Jonghe, P., & Scheffer, I. E. (2013) · Developmental Medicine & Child Neurology

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 25

The fast‐dissociating D 2 antagonist antipsychotic JNJ‐37822681 is a neuronal Kv7 channel opener: Potential repurposing for epilepsy treatment

Carotenuto, L., Keminer, O., Carleo, G., Zaliani, A., Leo, A., Citraro, R., De Sarro, G., Dirkx, N., Kaji, M., Weckhuysen, S., et al. (2025) · British Journal of Pharmacology

Ion channel regulation and functionEpilepsy research and treatment

Cited by 10

Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy

Macha, A., Liebsch, F., Fricke, S., Hetsch, F., Neuser, F., Johannes, L., Kress, V., Djémié, T., Santamaria-Araujo, J. A., Vilain, C., et al. (2022) · Human Molecular Genetics

Epilepsy research and treatmentNeuroscience and Neuropharmacology Research

Cited by 10