Epilepsy in fragile X syndrome

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481 · see citing works

Absence of expression of the FMR-1 gene in fragile X syndrome

Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476 · see citing works

Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits

Comery, T. A., Harris, J. B., Willems, P. J., Oostra, B. A., Irwin, S. A., Weiler, I. J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5401 · Cited by 1,046 · see citing works

The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

Devys, D., Lutz, Y., Rouyer, N., Bellocq, J., & Mandel, J. (1993) · Nature Genetics · doi:10.1038/ng0893-335 · Cited by 781 · see citing works

FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding

Ashley, C. T., Wilkinson, K. D., Reines, D., & Warren, S. T. (1993) · Science · doi:10.1126/science.7692601 · Cited by 741 · see citing works

Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation

Weiler, I. J., Irwin, S. A., Klintsova, A. Y., Spencer, C. M., Brazelton, A. D., Miyashiro, K., Comery, T. A., Patel, B., Eberwine, J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5395 · Cited by 644 · cited 5× · see citing works

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

Schenck, A., Bardoni, B., Moro, A., Bagni, C., & Mandel, J.-L. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.151231598 · Cited by 356 · see citing works

Audiogenic Seizures Susceptibility in Transgenic Mice with Fragile X Syndrome

Musumeci, S. A., Bosco, P., Calabrese, G., Bakker, C., De Sarro, G. B., Elia, M., Ferri, R., & Oostra, B. A. (2000) · Epilepsia · doi:10.1111/j.1528-1157.2000.tb01499.x · Cited by 289 · see citing works

EEG criteria predictive of complicated evolution in idiopathic rolandic epilepsy

Massa, R., Martin, A. D. S., Carcangiu, R., Rudolf, G., Seegmüller, C., Kleitz, C., Metz‐Lutz, M., Hirsch, É., & Marescaux, C. (2001) · Neurology · doi:10.1212/wnl.57.6.1071 · Cited by 274 · see citing works

Epilepsy and EEG Findings in Males with Fragile X Syndrome

Musumeci, S. A., Hagerman, R. J., Ferri, R., Bosco, P., Bernardina, B. D., Tassinari, C. A., Sarro, G. D., & Elia, M. (1999) · Epilepsia · doi:10.1111/j.1528-1157.1999.tb00824.x · Cited by 250 · see citing works

The course of benign partial epilepsy of childhood with centrotemporal spikes

Bouma, P. A. D., Bovenkerk, A., Westendorp, R. G. J., & Brouwer, O. F. (1997) · Neurology · doi:10.1212/wnl.48.2.430 · Cited by 224 · see citing works

Fragile X checklist

Hagerman, R. J., Amiri, K. M. A., & Cronister, A. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320380223 · Cited by 165 · see citing works

Fragile X Syndrome: Diagnosis, Treatment, and Research

Schmidt, M. A. (1997) · JAMA · doi:10.1001/jama.1997.03540380083039 · Cited by 95 · see citing works

Epilepsy and EEG findings in 18 males with fragile X syndrome

Sabaratnam, M., Vroegop, P. G., & Gangadharan, S. K. (2001) · Seizure · doi:10.1053/seiz.2000.0492 · Cited by 91 · see citing works

Malignant rolandic-sylvian epilepsy in children

Otsubo, H., Chitoku, S., Ochi, A., Jay, V., Rutka, J. T., Smith, M.-L., Elliott, I., & Snead, O. C. (2001) · Neurology · doi:10.1212/wnl.57.4.590 · Cited by 84 · see citing works

Physical characteristics of young boys with fragile X syndrome: Reasons for difficulties in making a diagnosis in young males

Lachiewicz, A. M., Dawson, D. V., & Spiridigliozzi, G. A. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000605)92:4 · Cited by 75 · see citing works

Aberrant behaviors of young boys with fragile X syndrome.

Am, L., Ga, S., Cm, G., Sn, R., & Rao, K. (1994) · PubMed · Cited by 71 · see citing works

Epilepsy and fragile X syndrome: A follow‐up study

Musumeci, S. A., Ferri, R., Elia, M., Colognola, R. M., Bergonzi, P., & Tassinari, C. A. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320380276 · Cited by 65 · see citing works

Epilepsy and fragile X gene mutations

Kluger, G. J., Böhm, I., Laub, M. C., & Waldenmaier, C. (1996) · Pediatric Neurology · doi:10.1016/s0887-8994(96)00251-2 · Cited by 37 · see citing works

Prevalence of a novel epileptogenic EEG pattern in the Martin‐Bell syndrome

Musumeci, S. A., Ferri, R., Colognola, R. M., Neri, G., Sanfilippo, S., & Bergonzi, P. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320300120 · Cited by 30 · see citing works

Clinico-neurological investigations in the fra(X) form of mental retardation

Vieregge, P., & Froster‐Iskenius, U. (1989) · Journal of Neurology · doi:10.1007/bf00314402 · Cited by 30 · see citing works

Benign Childhood Epilepsy with Centrotemporal Spikes and the Focal Sharp Wave Trait is not Linked to the Fragile X Region

Rees, M. I., Diebold, U., Parker, K., et al. (1993) · Neuropediatrics · doi:10.1055/s-2008-1071542 · Cited by 24 · see citing works

Partial Seizures With Focal Epileptogenic Electroencephalographic Patterns in Three Related Female Patients With Fragile-X Syndrome

Singh, R., Sutherland, G. R., & Manson, J. I. (1999) · Journal of Child Neurology · doi:10.1177/088307389901400208 · Cited by 10 · see citing works

Untitled work

Irwin (2001) · doi:10.1002/1096-8628(20010115)98:2

Untitled work

Turner (1996) · doi:10.1002/(sici)1096-8628(19960712)64:1

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions

Specchio, N., Wirrell, E. C., Scheffer, I. E., Nabbout, R., Riney, K., Samia, P., Guerreiro, M., Gwer, S., Zuberi, S. M., Wilmshurst, J. M., et al. (2022) · Epilepsia · doi:10.1111/epi.17241 · Cited by 998 · see citing works

Fragile X syndrome

Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838 · see citing works

Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X Syndrome

Osterweil, E. K., Krueger, D. D., Reinhold, K., & Bear, M. F. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.3888-10.2010 · Cited by 384 · see citing works

Multiple Autism-Linked Genes Mediate Synapse Elimination via Proteasomal Degradation of a Synaptic Scaffold PSD-95

Tsai, N.-P., Wilkerson, J. R., Guo, W., Maksimova, M. A., DeMartino, G. N., Cowan, C. W., & Huber, K. M. (2012) · Cell · doi:10.1016/j.cell.2012.11.040 · Cited by 316 · see citing works

Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012) · Journal of Clinical Investigation · doi:10.1172/jci63141 · Cited by 321 · see citing works

Fragile X syndrome: a review of associated medical problems

Kidd, S. A., Lachiewicz, A., Barbouth, D., Blitz, R. K., Delahunty, C., McBrien, D., Visootsak, J., & Berry-Kravis, E. (2014) · Pediatrics · doi:10.1542/peds.2013-4301 · Cited by 255 · see citing works

Rescue of fragile X syndrome phenotypes in <i>Fmr1</i> KO mice by the small-molecule PAK inhibitor FRAX486

Dolan, B. M., Duron, S. G., Campbell, D. A., Vollrath, B., Rao, B. S. S., Ko, H.-Y., Lin, G. G., Govindarajan, A., Choi, S.-Y., & Tonegawa, S. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1219383110 · Cited by 260 · see citing works

Fragile X and autism: intertwined at the molecular level leading to targeted treatments

Hagerman, R., Hoem, G., & Hagerman, P. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-12 · Cited by 247 · see citing works

Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome

Ronesi, J. A., Collins, K. A., Hays, S. A., Tsai, N.-P., Guo, W., Birnbaum, S. G., Hu, J.-H., Worley, P. F., Gibson, J. R., & Huber, K. M. (2012) · Nature Neuroscience · doi:10.1038/nn.3033 · Cited by 251 · see citing works

Modeling fragile X syndrome in the &lt;i&gt;Fmr1&lt;/i&gt; knockout mouse

Kazdoba, T. M., Leach, P. T., Silverman, J. L., & Crawley, J. N. (2014) · Intractable &amp; Rare Diseases Research · doi:10.5582/irdr.2014.01024 · Cited by 241 · see citing works

Lovastatin corrects excess protein synthesis and prevents epileptogenesis in a mouse model of fragile X syndrome

Osterweil, E. K., Chuang, S.-C., Chubykin, A. A., Sidorov, M., Bianchi, R., Wong, R. K. S., & Bear, M. F. (2013) · Neuron · doi:10.1016/j.neuron.2012.01.034 · Cited by 230 · see citing works

Open-label add-on treatment trial of minocycline in fragile X syndrome.

Paribello, C., Tao, L., Folino, A., Berry-Kravis, E., Tranfaglia, M., Ethell, I. M., & Ethell, D. W. (2010) · BMC Neurology · doi:10.1186/1471-2377-10-91 · Cited by 223 · see citing works

Open-Label Treatment Trial of Lithium to Target the Underlying Defect in Fragile X Syndrome

Berry-Kravis, E., Sumis, A., Hervey, C., Nelson, M., Porges, S. W., Weng, N., Weiler, I. J., & Greenough, W. T. (2008) · Journal of Developmental &amp; Behavioral Pediatrics · doi:10.1097/dbp.0b013e31817dc447 · Cited by 215 · see citing works

Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome.

Lovelace, J. W., Ethell, I. M., Binder, D. K., & Razak, K. A. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.03.012 · Cited by 154 · see citing works

Genetic Reduction of Matrix Metalloproteinase-9 Promotes Formation of Perineuronal Nets Around Parvalbumin-Expressing Interneurons and Normalizes Auditory Cortex Responses in Developing Fmr1 Knock-Out Mice

Wen, T. H., Afroz, S., Reinhard, S. M., Palacios, A. R., Tapia, K., Binder, D. K., Razak, K. A., & Ethell, I. M. (2018) · Cerebral Cortex · doi:10.1093/cercor/bhx258 · Cited by 165 · see citing works

Psychopharmacology in fragile X syndrome—Present and future

Berry‐Kravis, E., & Potanos, K. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20007 · Cited by 151 · see citing works

Convulsing toward the pathophysiology of autism

Tuchman, R., Moshé, S. L., & Rapin, I. (2009) · Brain and Development · doi:10.1016/j.braindev.2008.09.009 · Cited by 142 · see citing works

Early developmental alterations in GABAergic protein expression in fragile X knockout mice

Adusei, D. C., Pacey, L. K. K., Chen, D., & Hampson, D. R. (2010) · Neuropharmacology · doi:10.1016/j.neuropharm.2010.05.002 · Cited by 139 · see citing works

Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder

Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., & Hagerman, R. J. (2012) · Human Genetics · doi:10.1007/s00439-011-1106-6 · Cited by 109 · see citing works

Reversal of Fragile X Phenotypes by Manipulation of AβPP/Aβ Levels in Fmr1KO Mice

Westmark, C. J., Westmark, P. R., O'Riordan, K. J., Ray, B. C., Hervey, C. M., Salamat, M. S., Abozeid, S. H., Stein, K. M., Stodola, L. A., Tranfaglia, M., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0026549 · Cited by 110 · see citing works

Electrocortical changes associated with minocycline treatment in fragile X syndrome

Schneider, A., Leigh, M. J., Adams, P., Nanakul, R., Chechi, T., Olichney, J., Hagerman, R., & Hessl, D. (2013) · Journal of Psychopharmacology · doi:10.1177/0269881113494105 · Cited by 108 · see citing works

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder

García‐Nonell, C., Ratera, E. R., Harris, S., Hessl, D., Ono, M. Y., Tartaglia, N., Marvin, E., Tassone, F., & Hagerman, R. J. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32290 · Cited by 76 · see citing works

Deletion of Fmr1 alters function and synaptic inputs in the auditory brainstem

Rotschafer, S. E., Marshak, S., & Cramer, K. S. (2015) · PLOS ONE · doi:10.1371/journal.pone.0117266 · Cited by 72 · see citing works

Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes

Musumeci, S. A., Calabrese, G., Bonaccorso, C. M., D'Antoni, S., Brouwer, J. R., Bakker, C. E., Elia, M., Ferri, R., Nelson, D. L., Oostra, B. A., et al. (2007) · Experimental Neurology · doi:10.1016/j.expneurol.2006.08.007 · Cited by 70 · see citing works

Hyperexcitability and homeostasis in fragile X Syndrome.

Liu, X., Kumar, V., Tsai, N.-P., & Auerbach, B. D. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.805929 · Cited by 53 · see citing works

Molecular and Cellular Aspects of Mental Retardation in the Fragile X Syndrome: From Gene Mutation/s to Spine Dysmorphogenesis

De Rubeis, S., Fernández, E., Buzzi, A., Di Marino, D., & Bagni, C. (2012) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-7091-0932-8_23 · Cited by 48 · see citing works

Lovastatin, Not Simvastatin, Corrects Core Phenotypes in the Fragile X Mouse Model

Muscas, M., Louros, S. R., & Osterweil, E. K. (2019) · eneuro · doi:10.1523/eneuro.0097-19.2019 · Cited by 30 · see citing works

Results of a Nation-Wide Survey Evaluating Psychotropic Medication Use in Fragile X Syndrome

Valdovinos, M. G., Parsa, R. A., & Alexander, M. L. (2009) · Journal of Developmental and Physical Disabilities · doi:10.1007/s10882-008-9123-7 · Cited by 23 · see citing works

Classification criteria of epileptic seizures and syndromes

Seino, M. (2006) · Epilepsy Research · doi:10.1016/j.eplepsyres.2006.01.016 · Cited by 66 · see citing works

Epileptic Syndromes in Childhood

Aicardi, J. F. (1988) · Epilepsia · doi:10.1111/j.1528-1157.1988.tb05803.x · Cited by 43 · see citing works

PEDIATRIC EPILEPSY SYNDROMES

Wirrell, E. C., & Nickels, K. C. (2010) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/01.con.0000368232.19116.3d · Cited by 6 · see citing works

The Revised Definition and Classification of Epilepsy for Neurodiagnostic Technologists

Fisher, R. S., & Bonner, A. M. (2018) · The Neurodiagnostic Journal · doi:10.1080/21646821.2018.1428455 · Cited by 42 · see citing works

Idiopathic Generalized Epilepsy

McWilliam, M., & Khalili, Y. A. (2019) · StatPearls · Cited by 2 · see citing works