22Apr
Natural History of Adults with Genetic Epilepsies – papers
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Introduction
One of the main research areas our team focuses on is genetic epilepsies in adults. The field of genetic epilepsy has grown significantly over the last decade, specially since the advent of next generation sequencing techniques. However, most of the knowledge obtained is in the pediatric field. Very little is known about how patients with monogenic epilepsies, specially those with developmental and epileptic encephalopathies (DEEs) grow older. In fact, these patients have traditionally been seen by the adult neurologists as patients with “symptomatic epilepsy”, for whom nothing else can be done. Dr. Andrade’s extraordinary amount of work in this field has determined the natural history of several monogenic DEEs, as well as diagnosis and treatment pitfalls in adults with genetic epilepsies.
Research Papers
Rong M, Benke T, Zulfiqar Ali Q, Aledo-Serrano A, Bayat A, Rossi A, Devinsky O, Qaiser F, Ali A, Fasano A, Bassett A, Andrade D. M. (2023). Adult Phenotype of SYNGAP1-DEE. Neurology Genetics, 9(6), e200105. 10.1212/NXG.0000000000200105
Aljaafari, D., Fasano, A., Nascimento, F. A., Lang, A. E., & Andrade, D. M. (2017). Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. Epilepsia, 58(3), e44–e48. https://doi.org/10.1111/epi.13692
Andrade, D. M. (2014). The multiple faces of Dravet syndrome. Developmental Medicine and Child Neurology, 56(1), 10–11. https://doi.org/10.1111/dmcn.12332
Andrade, D. M. (2015). Dravet syndrome, lamotrigine, and personalized medicine. Developmental Medicine & Child Neurology, 57(2), 118–119. https://doi.org/10.1111/dmcn.12627
Andrade, D. M., Krings, T., Chow, E. W. C., Kiehl, T.-R., & Bassett, A. S. (2013). Hippocampal malrotation is associated with chromosome 22q11.2 microdeletion. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 40(5), 652–656. https://doi.org/10.1017/s0317167100014876
Bachour, K., House, A. A., Andrade, D. M., Connolly, M., Debicki, D. B., Desbiens, R., Fantaneanu, T. A., Kyriakopoulos, P., Lattouf, J.-B., Suller-Marti, A., Marques, P. T., & Keezer, M. R. (2022). Adults with tuberous sclerosis complex: A distinct patient population. Epilepsia, 63(3), 663–671. https://doi.org/10.1111/epi.17159
Boot, E., Butcher, N. J., van Amelsvoort, T. A. M. J., Lang, A. E., Marras, C., Pondal, M., Andrade, D. M., Fung, W. L. A., & Bassett, A. S. (2015). Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A, 167A(3), 639–645. https://doi.org/10.1002/ajmg.a.36928
Boot, E., Óskarsdóttir, S., Loo, J. C. Y., Crowley, T. B., Orchanian-Cheff, A., Andrade, D. M., Arganbright, J. M., Castelein, R. M., Cserti-Gazdewich, C., de Reuver, S., Fiksinski, A. M., Klingberg, G., Lang, A. E., Mascarenhas, M. R., Moss, E. M., Nowakowska, B. A., Oechslin, E., Palmer, L., Repetto, G. M., … Bassett, A. S. (2023). Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 25(3), 100344. https://doi.org/10.1016/j.gim.2022.11.012
Butcher, N. J., Boot, E., Lang, A. E., Andrade, D., Vorstman, J., McDonald-McGinn, D., & Bassett, A. S. (2018). Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series. American Journal of Medical Genetics. Part A, 176(10), 2146–2159. https://doi.org/10.1002/ajmg.a.38708
Butcher, N. J., Fung, W. L. A., Fitzpatrick, L., Guna, A., Andrade, D. M., Lang, A. E., Chow, E. W. C., & Bassett, A. S. (2015). Response to clozapine in a clinically identifiable subtype of schizophrenia. The British Journal of Psychiatry: The Journal of Mental Science, 206(6), 484–491. https://doi.org/10.1192/bjp.bp.114.151837
Cheung, E. N. M., George, S. R., Andrade, D. M., Chow, E. W. C., Silversides, C. K., & Bassett, A. S. (2014). Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 16(1), 40–44. https://doi.org/10.1038/gim.2013.71
Cheung, E. N. M., George, S. R., Costain, G. A., Andrade, D. M., Chow, E. W. C., Silversides, C. K., & Bassett, A. S. (2014). Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome. Clinical Endocrinology, 81(2), 190–196. https://doi.org/10.1111/cen.12466
Fasano, A., Borlot, F., Lang, A. E., & Andrade, D. M. (2014). Antecollis and levodopa-responsive parkinsonism are late features of Dravet syndrome. Neurology, 82(24), 2250–2251. https://doi.org/10.1212/WNL.0000000000000521
Fung, W. L. A., Butcher, N. J., Costain, G., Andrade, D. M., Boot, E., Chow, E. W. C., Chung, B., Cytrynbaum, C., Faghfoury, H., Fishman, L., García-Miñaúr, S., George, S., Lang, A. E., Repetto, G., Shugar, A., Silversides, C., Swillen, A., van Amelsvoort, T., McDonald-McGinn, D. M., & Bassett, A. S. (2015). Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 17(8), 599–609. https://doi.org/10.1038/gim.2014.175
Lowther, C., Costain, G., Stavropoulos, D. J., Melvin, R., Silversides, C. K., Andrade, D. M., So, J., Faghfoury, H., Lionel, A. C., Marshall, C. R., Scherer, S. W., & Bassett, A. S. (2015). Delineating the 15q13.3 microdeletion phenotype: A case series and comprehensive review of the literature. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 17(2), 149–157. https://doi.org/10.1038/gim.2014.83
Marques, P. T., Zulfiqar Ali, Q., Selvarajah, A., Faghfoury, H., Wennberg, R. A., & Andrade, D. M. (2021). Hyperammonemic encephalopathy associated with perampanel: Case report and discussion. The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 48(3), 438–439. https://doi.org/10.1017/cjn.2020.203
Nascimento, F. A., Aljaafari, D., Rahim, M., Krings, T., & Andrade, D. (2016). Aicardi syndrome: When to suspect the unexpected. Epileptic Disorders: International Epilepsy Journal with Videotape, 18(2), 216. https://doi.org/10.1684/epd.2016.0826
Nascimento, F. A., & Andrade, D. M. (2016). Myoclonus epilepsy and ataxia due to potassium channel mutation (Meak) is caused by heterozygous KCNC1 mutations. Epileptic Disorders: International Epilepsy Journal with Videotape, 18(S2), 135–138. https://doi.org/10.1684/epd.2016.0859
Nascimento, F. A., Canafoglia, L., Aljaafari, D., Muona, M., Lehesjoki, A.-E., Berkovic, S. F., Franceschetti, S., & Andrade, D. M. (2016). Progressive myoclonus epilepsy associated with SACS gene mutations. Neurology: Genetics, 2(4), e83. https://doi.org/10.1212/NXG.0000000000000083
Nascimento, F. A., Faghfoury, H., Krings, T., Ali, A., Fridhandler, J. D., Lozano, A., Wennberg, R., & Andrade, D. M. (2014). Deep brain stimulation for the management of seizures in MECP2 duplication syndrome. Seizure, 23(5), 405–407. https://doi.org/10.1016/j.seizure.2014.01.021
Rezazadeh, A., Bercovici, E., Kiehl, T., Chow, E. W., Krings, T., Bassett, A. S., & Andrade, D. M. (2018). Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration. Annals of Clinical and Translational Neurology, 5(11), 1314–1322. https://doi.org/10.1002/acn3.641
Rezazadeh, A., Uddin, M., Snead, O. C., Lira, V., Silberberg, A., Weiss, S., Donner, E. J., Zak, M., Bradbury, L., Scherer, S. W., Fasano, A., & Andrade, D. M. (2019). STXBP1 encephalopathy is associated with awake bruxism. Epilepsy & Behavior: E&B, 92, 121–124. https://doi.org/10.1016/j.yebeh.2018.12.018
Selvarajah, A., Zulfiqar-Ali, Q., Marques, P., Rong, M., & Andrade, D. M. (2021). A systematic review of adults with Dravet syndrome. Seizure, 87, 39–45. https://doi.org/10.1016/j.seizure.2021.02.025
Sen, A., Dugan, P., Perucca, P., Costello, D., Choi, H., Bazil, C., Radtke, R., Andrade, D., Depondt, C., Heavin, S., Adcock, J., Pickrell, W. O., McGinty, R. N., Nascimento, F., Smith, P., Rees, M. I., Kwan, P., O’Brien, T. J., Goldstein, D., & Delanty, N. (2018). The phenotype of bilateral hippocampal sclerosis and its management in “real life” clinical settings. Epilepsia, 59(7), 1410–1420. https://doi.org/10.1111/epi.14436
Shakeshaft, A., Laiou, P., Abela, E., Stavropoulos, I., Richardson, M. P., Pal, D. K., BIOJUME Consortium, Orsini, A., Howell, A., Hyde, A., McQueen, A., Duran, A., Gaurav, A., Collingwood, A., Kitching, A., Shakeshaft, A., Papathanasiou, A., Clough, A., Gribbin, A., … Whitehouse, W. (2022). Heterogeneity of resting-state EEG features in juvenile myoclonic epilepsy and controls. Brain Communications, 4(4), fcac180. https://doi.org/10.1093/braincomms/fcac180
Shakeshaft, A., Panjwani, N., Collingwood, A., Crudgington, H., Hall, A., Andrade, D. M., Beier, C. P., Fong, C. Y., Gardella, E., Gesche, J., Greenberg, D. A., Hamandi, K., Koht, J., Lim, K. S., Møller, R. S., Ng, C. C., Orsini, A., Rees, M. I., Rubboli, G., … Pal, D. K. (2022). Sex-specific disease modifiers in juvenile myoclonic epilepsy. Scientific Reports, 12(1), 2785. https://doi.org/10.1038/s41598-022-06324-2
Shakeshaft, A., Panjwani, N., McDowall, R., Crudgington, H., Peña Ceballos, J., Andrade, D. M., Beier, C. P., Fong, C. Y., Gesche, J., Greenberg, D. A., Hamandi, K., Koht, J., Lim, K. S., Orsini, A., Rees, M. I., Rubboli, G., Selmer, K. K., Smith, A. B., Striano, P., … BIOJUME Consortium. (2021). Trait impulsivity in juvenile myoclonic epilepsy. Annals of Clinical and Translational Neurology, 8(1), 138–152. https://doi.org/10.1002/acn3.51255
Steriade, C., Andrade, D. M., Faghfoury, H., Tarnopolsky, M. A., & Tai, P. (2014). Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (Melas) may respond to adjunctive ketogenic diet. Pediatric Neurology, 50(5), 498–502. https://doi.org/10.1016/j.pediatrneurol.2014.01.009
Tabarestani, S., Varriano, B., Rawal, S., France Morel, C., Carmela Tartaglia, M., & Andrade, D. M. (2020). Seizures and early onset dementia: D2HGA1 inborn error of metabolism in adults. Annals of Clinical and Translational Neurology, 7(10), 2052–2056. https://doi.org/10.1002/acn3.51162
Uptodate. (n.d.). Retrieved April 22, 2023, from https://www.uptodate.com/contents/dravet-syndrome-genetics-clinical-features-and-diagnosis
Vlaskamp, D. R. M., Bassett, A. S., Sullivan, J. E., Robblee, J., Sadleir, L. G., Scheffer, I. E., & Andrade, D. M. (2019). Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy. Epilepsia, 60(3), 429–440. https://doi.org/10.1111/epi.14678
Wu, N., Borlot, F., Ali, A., Krings, T., & Andrade, D. M. (2014). Hemimegalencephaly: What happens when children get older? Developmental Medicine and Child Neurology, 56(9), 905–909. https://doi.org/10.1111/dmcn.12390
Zulfiqar Ali, Q., Marques, P., Selvarajah, A., Tabarestani, S., Sadoway, T., & Andrade, D. M. (2020). Starting stiripentol in adults with Dravet syndrome? Watch for ammonia and carnitine. Epilepsia, 61(11), 2435–2441. https://doi.org/10.1111/epi.16684