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1. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Author

LaFlamme, Christy W., Rastin, Cassandra, Sengupta, Soham, Pennington, Helen E., Russ-Hall, Sophie J., Schneider, Amy L., Bonkowski, Emily S., Almanza Fuerte, Edith P., Allan, Talia J., Zalusky, Miranda Perez-Galey, Goffena, Joy, Gibson, Sophia B., Nyaga, Denis M., Lieffering, Nico, Hebbar, Malavika, Walker, Emily V., Darnell, Daniel, Olsen, Scott R., Kolekar, Pandurang, Djekidel, Mohamed Nadhir, Rosikiewicz, Wojciech, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Relator, Raissa, Lev, Dorit, Lerman-Sagie, Tally, Park, Kristen L., Alders, Marielle, Cappuccio, Gerarda, Chatron, Nicolas, Demain, Leigh, Genevieve, David, Lesca, Gaetan, Roscioli, Tony, Sanlaville, Damien, Tedder, Matthew L., Gupta, Sachin, Jones, Elizabeth A., Weisz-Hubshman, Monika, Ketkar, Shamika, Dai, Hongzheng, Worley, Kim C., Rosenfeld, Jill A., Chao, Hsiao-Tuan, Neale, Geoffrey, Carvill, Gemma L., Wang, Zhaoming, Berkovic, Samuel F., Sadleir, Lynette G., Miller, Danny E., Scheffer, Ingrid E., Sadikovic, Bekim, and Mefford, Heather C.

Published
2024
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2. Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase

Author

Jones, Amy G., Aquilino, Matilde, Tinker, Rory J., Duncan, Laura, Jenkins, Zandra, Carvill, Gemma L., DeWard, Stephanie J., Grange, Dorothy K., Hajianpour, MJ, Halliday, Benjamin J., Holder-Espinasse, Muriel, Horvath, Judit, Maitz, Silvia, Nigro, Vincenzo, Morleo, Manuela, Paul, Victoria, Spencer, Careni, Esterhuizen, Alina I., Polster, Tilman, Spano, Alice, Gómez-Lozano, Inés, Kumar, Abhishek, Poke, Gemma, Phillips, John A., III, Underhill, Hunter R., Gimenez, Gregory, Namba, Takashi, and Robertson, Stephen P.

Published
2024
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3. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Paul, Maimuna S., Michener, Sydney L., Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M., Lerma, Vanesa C., Tran, Alyssa, Longley, Megan A., Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Perne, Claudia, Mester, Jessica L., Guillen Sacoto, Maria J., Person, Richard, McDonnell, Pamela P., Cohen, Stacey R., Lusk, Laina, Cohen, Ana S.A., Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Schaefer, Gerald Bradley, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Banos-Pinero, Benito, Pagnamenta, Alistair T., Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E., and Carvill, Gemma L.

Published
2024
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5. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Author

Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Buckingham, Kati J., Chong, Jessica X., Cornejo Sánchez, Diana, Davis, Colleen P., Davis, Chayna J., Frazar, Christian D., Gomeztagle-Burgess, Katherine, Gordon, William W., Horike-Pyne, Martha, Hurless, Jameson R., Jarvik, Gail P., Johanson, Eric, Thomas Kolar, J., Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Mekonnen, Betselote, Nielsen, Patrick M., Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A., Roote, Gwendolin T., Ryke, Erica L., Schrauwen, Isabelle, Shively, Kathryn M., Smith, Joshua D., Tackett, Monica, Wang, Gao, Weiss, Jeffrey M., Wheeler, Marsha M., Yi, Qian, Zhang, Xiaohong, Esterhuizen, Alina I., Tiffin, Nicki, Riordan, Gillian, Wessels, Marie, Burman, Richard J., Aziz, Miriam C., Calhoun, Jeffrey D., Gunti, Jonathan, Amiri, Ezra E., Ramamurthy, Aishwarya, Mefford, Heather C., Ramesar, Raj, Wilmshurst, Jo M., and Carvill, Gemma L.

Published
2023
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7. Defining the phenotypic spectrum of SLC6A1 mutations

Author

Johannesen, Katrine M, Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Martin, Anne Saint, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J Lawrence, Rodan, Lance H, Tan, Wen‐Hann, Bird, Lynne M, Nespeca, Mark, Gleeson, Joseph G, Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S, Schelhaas, Helenius J, Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G, Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E, Pisani, Laura, Myers, Candace T, Tang, Sha, Tang, Shan, Pal, Deb K, Millichap, John J, Carvill, Gemma L, Helbig, Kathrine L, Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C, and Møller, Rikke S

Subjects
Behavioral and Social Science, Neurodegenerative, Neurosciences, Genetics, Epilepsy, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Anticonvulsants, Ataxia, Child, Child, Preschool, Cohort Studies, Electroencephalography, Epilepsies, Myoclonic, Epilepsies, Partial, Epilepsy, Generalized, Female, GABA Plasma Membrane Transport Proteins, Genetic Association Studies, Humans, Intellectual Disability, Language Development Disorders, Male, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Phenotype, Treatment Outcome, Valproic Acid, Young Adult, epilepsy, epilepsy genetics, MAE, SLC6A1, MAE, SLC6A1, Clinical Sciences, Neurology & Neurosurgery
Abstract

ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.MethodsWe collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.ResultsCognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).SignificanceMost patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.

Published
2018

8. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

Author

Paul, Maimuna S., primary, Michener, Sydney L., additional, Pan, Hongling, additional, Chan, Hiuling, additional, Pfliger, Jessica M., additional, Rosenfeld, Jill A., additional, Lerma, Vanesa C., additional, Tran, Alyssa, additional, Longley, Megan A., additional, Lewis, Richard A., additional, Weisz-Hubshman, Monika, additional, Bekheirnia, Mir Reza, additional, Bekheirnia, Nasim, additional, Massingham, Lauren, additional, Zech, Michael, additional, Wagner, Matias, additional, Engels, Hartmut, additional, Cremer, Kirsten, additional, Mangold, Elisabeth, additional, Peters, Sophia, additional, Trautmann, Jessica, additional, Perne, Claudia, additional, Mester, Jessica L., additional, Guillen Sacoto, Maria J., additional, Person, Richard, additional, McDonnell, Pamela P., additional, Cohen, Stacey R., additional, Lusk, Laina, additional, Cohen, Ana S.A., additional, Le Pichon, Jean-Baptiste, additional, Pastinen, Tomi, additional, Zhou, Dihong, additional, Engleman, Kendra, additional, Racine, Caroline, additional, Faivre, Laurence, additional, Moutton, Sébastien, additional, Denommé-Pichon, Anne-Sophie, additional, Koh, Hyun Yong, additional, Poduri, Annapurna, additional, Bolton, Jeffrey, additional, Knopp, Cordula, additional, Julia Suh, Dong Sun, additional, Maier, Andrea, additional, Toosi, Mehran Beiraghi, additional, Karimiani, Ehsan Ghayoor, additional, Maroofian, Reza, additional, Schaefer, Gerald Bradley, additional, Ramakumaran, Vijayalakshmi, additional, Vasudevan, Pradeep, additional, Banos-Pinero, Benito, additional, Pagnamenta, Alistair T., additional, Prasad, Chitra, additional, Osmond, Matthew, additional, Schuhmann, Sarah, additional, Vasileiou, Georgia, additional, Russ-Hall, Sophie, additional, Scheffer, Ingrid E., additional, Carvill, Gemma L., additional, Mefford, Heather, additional, Bacino, Carlos A., additional, Lee, Brendan H., additional, and Chao (趙孝端), Hsiao-Tuan, additional

Published
2024
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10. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Author

Consortium, Epi4K, Myers, Candace T, McMahon, Jacinta M, Schneider, Amy L, Petrovski, Slavé, Allen, Andrew S, Carvill, Gemma L, Zemel, Matthew, Saykally, Julia E, LaCroix, Amy J, Heinzen, Erin L, Hollingsworth, Georgina, Nikanorova, Marina, Corbett, Mark, Gecz, Jozef, Coman, David, Freeman, Jeremy, Calvert, Sophie, Gill, Deepak, Carney, Patrick, Lerman-Sagie, Tally, Sampaio, Hugo, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E, Epstein, Michael P, Glauser, Tracy, Johnson, Michael R, Kuzniecky, Ruben, Marson, Anthony G, O’Brien, Terence J, Ottman, Ruth, Petrou, Stephen, Poduri, Annapurna, Pickrell, William O, Chung, Seo-Kyung, Rees, Mark I, Sherr, Elliott, Sadleir, Lynette G, Goldstein, David B, Lowenstein, Daniel H, Møller, Rikke S, Berkovic, Samuel F, Scheffer, Ingrid E, and Mefford, Heather C

Subjects
Human Genome, Brain Disorders, Pediatric, Prevention, Genetics, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Calcium Channels, Child, Preschool, Cohort Studies, Epilepsy, Excitatory Amino Acid Transporter 2, Female, GTP-Binding Protein alpha Subunits, Gi-Go, Glutamate Plasma Membrane Transport Proteins, Guanine Nucleotide Exchange Factors, Humans, Infant, Infant, Newborn, Male, Mosaicism, Mutation, N-Acetylglucosaminyltransferases, Receptors, GABA-A, Seizures, Epi4K Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their underlying genetic heterogeneity. Our previous whole-exome sequencing study of 264 parent-child trios revealed more than 290 candidate genes in which only a single individual had a de novo variant. We sought to identify additional pathogenic variants in a subset (n = 27) of these genes via targeted sequencing in an unsolved cohort of 531 individuals with a diverse range of EEs. We report 17 individuals with pathogenic variants in seven of the 27 genes, defining a genetic etiology in 3.2% of this unsolved cohort. Our results provide definitive evidence that de novo mutations in SLC1A2 and CACNA1A cause specific EEs and expand the compendium of clinically relevant genotypes for GABRB3. We also identified EEs caused by genetic variants in ALG13, DNM1, and GNAO1 and report a mutation in IQSEC2. Notably, recurrent mutations accounted for 7/17 of the pathogenic variants identified. As a result of high-depth coverage, parental mosaicism was identified in two out of 14 cases tested with mutant allelic fractions of 5%-6% in the unaffected parents, carrying significant reproductive counseling implications. These results confirm that dysregulation in diverse cellular neuronal pathways causes EEs, and they will inform the diagnosis and management of individuals with these devastating disorders.

Published
2016

12. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Author

Jansen, Sandra, Hoischen, Alexander, Coe, Bradley P., Carvill, Gemma L., Van Esch, Hilde, Bosch, Daniëlle G. M., Andersen, Ulla A., Baker, Carl, Bauters, Marijke, Bernier, Raphael A., van Bon, Bregje W., Claahsen-van der Grinten, Hedi L., Gecz, Jozef, Gilissen, Christian, Grillo, Lucia, Hackett, Anna, Kleefstra, Tjitske, Koolen, David, Kvarnung, Malin, Larsen, Martin J., Marcelis, Carlo, McKenzie, Fiona, Monin, Marie-Lorraine, Nava, Caroline, Schuurs-Hoeijmakers, Janneke H., Pfundt, Rolph, Steehouwer, Marloes, Stevens, Servi J. C., Stumpel, Connie T., Vansenne, Fleur, Vinci, Mirella, van de Vorst, Maartje, Vries, Petra de, Witherspoon, Kali, Veltman, Joris A., Brunner, Han G., Mefford, Heather C., Romano, Corrado, Vissers, Lisenka E. L. M., Eichler, Evan E., and de Vries, Bert B. A.

Published
2018
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13. Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy

Author

Happ, Hannah C, primary, Schneider, Patricia N, additional, Hong, Jung Hwa, additional, Goes, Eleanor, additional, Bandouil, Masha, additional, Biar, Carina G, additional, Ramamurthy, Aishwary, additional, Reese, Fairlie, additional, Engel, Krysta, additional, Weckhuysen, Sarah, additional, Scheffer, Ingrid E, additional, Mefford, Heather C, additional, Calhoun, Jeffrey D, additional, and Carvill, Gemma L, additional

Published
2023
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14. Rare variants inPPFIA3cause delayed development, intellectual disability, autism, and epilepsy

Author

Paul, Maimuna S., primary, Michener, Sydney L., additional, Pan, Hongling, additional, Pfliger, Jessica M., additional, Rosenfeld, Jill A., additional, Lerma, Vanesa C., additional, Tran, Alyssa, additional, Longley, Megan A., additional, Lewis, Richard A., additional, Weisz-Hubshman, Monika, additional, Bekheirnia, Mir Reza, additional, Bekheirnia, Nasim, additional, Massingham, Lauren, additional, Zech, Michael, additional, Wagner, Matias, additional, Engels, Hartmut, additional, Cremer, Kirsten, additional, Mangold, Elisabeth, additional, Peters, Sophia, additional, Trautmann, Jessica, additional, Mester, Jessica L., additional, Guillen Sacoto, Maria J., additional, Person, Richard, additional, McDonnell, Pamela P., additional, Cohen, Stacey R., additional, Lusk, Laina, additional, Cohen, Ana S.A., additional, Pichon, Jean-Baptiste Le, additional, Pastinen, Tomi, additional, Zhou, Dihong, additional, Engleman, Kendra, additional, Racine, Caroline, additional, Faivre, Laurence, additional, Moutton, Sébastien, additional, Pichon, Anne-Sophie Denommé-, additional, Schuhmann, Sarah, additional, Vasileiou, Georgia, additional, Russ-Hall, Sophie, additional, Scheffer, Ingrid E., additional, Carvill, Gemma L., additional, Mefford, Heather, additional, Network, Undiagnosed Diseases, additional, Bacino, Carlos A., additional, Lee, Brendan H., additional, and Chao, Hsiao-Tuan, additional

Published
2023
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15. Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

Author

Mencacci, Niccolo E., Brockmann, Marisa M., Dai, Jinye, Pajusalu, Sander, Atasu, Burcu, Campos, Joaquin, Pino, Gabriela, Gonzalez-Latapi, Paulina, Patzke, Christopher, Schwake, Michael, Tucci, Arianna, Pittman, Alan, Simon-Sanchez, Javier, Carvill, Gemma L., Wiethoff, Bettina Balin Sarah, Warner, Thomas T., Papandreou, Apostolos, Soo, Audrey, Rein, Reet, Kadastik-Eerme, Liis, Puusepp, Sanna, Reinson, Karit, Tomberg, Tiiu, Hanagasi, Hasmet, Gasser, Thomas, Bhatia, Kailash P., Kurian, Manju A., Lohmann, Ebba, Ounap, Katrin, Rosenmund, Christian, Sudhof, Thomas C., Wood, Nicholas W., Krainc, Dimitri, and Acuna, Claudio

Subjects
Binding proteins -- Health aspects, Neural transmission -- Genetic aspects -- Health aspects, Genetic variation -- Health aspects, Dystonia -- Genetic aspects -- Development and progression -- Care and treatment, Health care industry
Abstract

Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense, and missense variants in TSPOAP1, which encodes the active-zone RIM-binding protein 1 (RIMBP1), as a genetic cause of autosomal recessive dystonia in 7 subjects from 3 unrelated families. Subjects carrying loss-of-function variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy. Conversely, subjects carrying a pathogenic missense variant (p.Gly1808Ser) presented with isolated adult-onset focal dystonia. In mice, complete loss of RIMBP1, known to reduce neurotransmission, led to motor abnormalities reminiscent of dystonia, decreased Purkinje cell dendritic arborization, and reduced numbers of cerebellar synapses. In vitro analysis of the p.Gly1808Ser variant showed larger spike-evoked calcium transients and enhanced neurotransmission, suggesting that RIMBP1-linked dystonia can be caused by either reduced or enhanced rates of spike-evoked release in relevant neural networks. Our findings establish a direct link between dysfunction of the presynaptic active zone and dystonia and highlight the critical role played by well-balanced neurotransmission in motor control and disease pathogenesis., Introduction Dystonia is a disabling hyperkinetic movement disorder characterized by an excess of sustained, often repetitive, involuntary twisting movements, and abnormal postures (1). Dystonia, after Parkinson's disease and essential tremor, [...]

Published
2021
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16. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Author

Happ, Hannah C., primary, Sadleir, Lynette G., additional, Zemel, Matthew, additional, de Valles-Ibáñez, Guillem, additional, Hildebrand, Michael S., additional, McConkie-Rosell, Allyn, additional, McDonald, Marie, additional, May, Halie, additional, Sands, Tristan, additional, Aggarwal, Vimla, additional, Elder, Christopher, additional, Feyma, Timothy, additional, Bayat, Allan, additional, Møller, Rikke S., additional, Fenger, Christina D., additional, Klint Nielsen, Jens Erik, additional, Datta, Anita N., additional, Gorman, Kathleen M., additional, King, Mary D., additional, Linhares, Natalia D., additional, Burton, Barbara K., additional, Paras, Andrea, additional, Ellard, Sian, additional, Rankin, Julia, additional, Shukla, Anju, additional, Majethia, Purvi, additional, Olson, Rory J., additional, Muthusamy, Karthik, additional, Schimmenti, Lisa A., additional, Starnes, Keith, additional, Sedláčková, Lucie, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Laššuthová, Petra, additional, Jahodová, Alena, additional, Porter, Brenda E., additional, Couque, Nathalie, additional, Colin, Estelle, additional, Prouteau, Clément, additional, Collet, Corinne, additional, Smol, Thomas, additional, Caumes, Roseline, additional, Vansenne, Fleur, additional, Bisulli, Francesca, additional, Licchetta, Laura, additional, Person, Richard, additional, Torti, Erin, additional, McWalter, Kirsty, additional, Webster, Richard, additional, Gerard, Elizabeth E., additional, Lesca, Gaetan, additional, Szepetowski, Pierre, additional, Scheffer, Ingrid E., additional, Mefford, Heather C., additional, and Carvill, Gemma L., additional

Published
2023
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17. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Author

Esterhuizen, Alina I., primary, Tiffin, Nicki, additional, Riordan, Gillian, additional, Wessels, Marie, additional, Burman, Richard J., additional, Aziz, Miriam C., additional, Calhoun, Jeffrey D., additional, Gunti, Jonathan, additional, Amiri, Ezra E., additional, Ramamurthy, Aishwarya, additional, Bamshad, Michael J., additional, Mefford, Heather C., additional, Ramesar, Raj, additional, Wilmshurst, Jo M., additional, Carvill, Gemma L., additional, Leal, Suzanne M., additional, Nickerson, Deborah A., additional, Anderson, Peter, additional, Bacus, Tamara J., additional, Blue, Elizabeth E., additional, Brower, Katherine, additional, Buckingham, Kati J., additional, Chong, Jessica X., additional, Cornejo Sánchez, Diana, additional, Davis, Colleen P., additional, Davis, Chayna J., additional, Frazar, Christian D., additional, Gomeztagle-Burgess, Katherine, additional, Gordon, William W., additional, Horike-Pyne, Martha, additional, Hurless, Jameson R., additional, Jarvik, Gail P., additional, Johanson, Eric, additional, Thomas Kolar, J., additional, Marvin, Colby T., additional, McGee, Sean, additional, McGoldrick, Daniel J., additional, Mekonnen, Betselote, additional, Nielsen, Patrick M., additional, Patterson, Karynne, additional, Radhakrishnan, Aparna, additional, Richardson, Matthew A., additional, Roote, Gwendolin T., additional, Ryke, Erica L., additional, Schrauwen, Isabelle, additional, Shively, Kathryn M., additional, Smith, Joshua D., additional, Tackett, Monica, additional, Wang, Gao, additional, Weiss, Jeffrey M., additional, Wheeler, Marsha M., additional, Yi, Qian, additional, and Zhang, Xiaohong, additional

Published
2023
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20. Precision medicine for developmental and epileptic encephalopathies in Africa – strategies for a resource-limited setting

Author

Esterhuizen, Alina I., primary, Tiffin, Nicki, additional, Riordan, Gillian, additional, Wessels, Marie, additional, Burman, Richard J., additional, Aziz, Miriam C., additional, Calhoun, Jeffrey D., additional, Gunti, Jonathan, additional, Amiri, Ezra E., additional, Ramamurthy, Aishwarya, additional, Bamshad, Michael J., additional, Nickerson, Deborah A., additional, Mefford, Heather C., additional, Ramesar, Raj, additional, Wilmshurst, Jo M., additional, and Carvill, Gemma L., additional

Published
2022
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21. mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

Author

Calhoun, Jeffrey D, primary, Aziz, Miriam C, additional, Happ, Hannah C, additional, Gunti, Jonathan, additional, Gleason, Colleen, additional, Mohamed, Najma, additional, Zeng, Kristy, additional, Hiller, Meredith, additional, Bryant, Emily, additional, Mithal, Divakar S, additional, Bellinski, Irena, additional, Kinsley, Lisa, additional, Grimmel, Mona, additional, Schwaibold, Eva M C, additional, Smith-Hicks, Constance, additional, Chassevent, Anna, additional, Scala, Marcello, additional, Accogli, Andrea, additional, Torella, Annalaura, additional, Striano, Pasquale, additional, Capra, Valeria, additional, Bird, Lynne M, additional, Ben-Sahra, Issam, additional, Ekhilevich, Nina, additional, Hershkovitz, Tova, additional, Weiss, Karin, additional, Millichap, John, additional, Gerard, Elizabeth E, additional, and Carvill, Gemma L, additional

Published
2022
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22. Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

Author

Happ, Hannah C., primary, Sadleir, Lynette G., additional, Zemel, Matthew, additional, de Valles-Ibáñez, Guillem, additional, Hildebrand, Michael S., additional, McConkie-Rosell, Allyn, additional, McDonald, Marie, additional, May, Halie, additional, Sands, Tristan, additional, Aggarwal, Vimla, additional, Elder, Christopher, additional, Feyma, Timothy, additional, Bayat, Allan, additional, Møller, Rikke S., additional, Fenger, Christina D., additional, Nielsen, Jens Erik Klint, additional, Datta, Anita N., additional, Gorman, Kathleen M., additional, King, Mary D., additional, Linhares, Natalia, additional, Burton, Barbara K., additional, Paras, Andrea, additional, Ellard, Sian, additional, Rankin, Julia, additional, Shukla, Anju, additional, Majethia, Purvi, additional, Olson, Rory J., additional, Muthusamy, Karthik, additional, Schimmenti, Lisa A, additional, Starnes, Keith, additional, Sedláčková, Lucie, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Laššuthová, Petra, additional, Jahodová, Alena, additional, Porter, Brenda E., additional, Couque, Nathalie, additional, Colin, Estelle, additional, Prouteau, Clément, additional, Collet, Corinne, additional, Smol, Thomas, additional, Caumes, Roseline, additional, Vansenne, Fleur, additional, Bisulli, Francesca, additional, Licchetta, Laura, additional, Person, Richard, additional, Torti, Erin, additional, McWalter, Kirsty, additional, Webster, Richard, additional, Lesca, Gaetan, additional, Szepetowski, Pierre, additional, Scheffer, Ingrid E., additional, Mefford, Heather C., additional, and Carvill, Gemma L., additional

Published
2022
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23. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Author

Stolz, Jacob R., primary, Foote, Kendall M., additional, Veenstra-Knol, Hermine E., additional, Pfundt, Rolph, additional, ten Broeke, Sanne W., additional, de Leeuw, Nicole, additional, Roht, Laura, additional, Pajusalu, Sander, additional, Part, Reelika, additional, Rebane, Ionella, additional, Õunap, Katrin, additional, Stark, Zornitza, additional, Kirk, Edwin P., additional, Lawson, John A., additional, Lunke, Sebastian, additional, Christodoulou, John, additional, Louie, Raymond J., additional, Rogers, R. Curtis, additional, Davis, Jessica M., additional, Innes, A. Micheil, additional, Wei, Xing-Chang, additional, Keren, Boris, additional, Mignot, Cyril, additional, Lebel, Robert Roger, additional, Sperber, Steven M., additional, Sakonju, Ai, additional, Dosa, Nienke, additional, Barge-Schaapveld, Daniela Q.C.M., additional, Peeters-Scholte, Cacha M.P.C.D., additional, Ruivenkamp, Claudia A.L., additional, van Bon, Bregje W., additional, Kennedy, Joanna, additional, Low, Karen J., additional, Ellard, Sian, additional, Pang, Lewis, additional, Junewick, Joseph J., additional, Mark, Paul R., additional, Carvill, Gemma L., additional, and Swanson, Geoffrey T., additional

Published
2021
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24. Mutations in KCNT1 cause a spectrum of focal epilepsies

Author

Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., van Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, and Dibbens, Leanne M.

Published
2015
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27. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Author

Martin, Hilary C., Kim, Grace E., Pagnamenta, Alistair T., Murakami, Yoshiko, Carvill, Gemma L., Meyer, Esther, Copley, Richard R., Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R., Kronengold, Jack, Brown, Maile R., Hudspith, Karl A., Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C., Shears, Deborah, Stewart, Helen, Kurian, Manju A., Scheffer, Ingrid E., Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K., and Taylor, Jenny C.

Published
2014
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28. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia

Author

Yu, Lan, Bennett, James T, Wynn, Julia, Carvill, Gemma L, Cheung, Yee Him, Shen, Yufeng, Mychaliska, George B, Azarow, Kenneth S, Crombleholme, Timothy M, Chung, Dai H, Potoka, Douglas, Warner, Brad W, Bucher, Brian, Lim, Foong-Yen, Pietsch, John, Stolar, Charles, Aspelund, Gudrun, Arkovitz, Marc S, Mefford, Heather, and Chung, Wendy K

Published
2014
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29. Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

Author

Myers, Kenneth A., primary, Marini, Carla, additional, Carvill, Gemma L., additional, McTague, Amy, additional, Panetta, Julie, additional, Stutterd, Chloe, additional, Stanley, Thorsten, additional, Marin, Samantha, additional, Nguyen, John, additional, Barba, Carmen, additional, Rosati, Anna, additional, Scott, Richard H., additional, Mefford, Heather C., additional, Guerrini, Renzo, additional, and Scheffer, Ingrid E., additional

Published
2021
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30. Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Author

Spinelli, Egidio, primary, Christensen, Kyle R, additional, Bryant, Emily, additional, Schneider, Amy, additional, Rakotomamonjy, Jennifer, additional, Muir, Alison M, additional, Giannelli, Jessica, additional, Littlejohn, Rebecca O, additional, Roeder, Elizabeth R, additional, Schmidt, Berkley, additional, Wilson, William G, additional, Marco, Elysa J, additional, Iwama, Kazuhiro, additional, Kumada, Satoko, additional, Pisano, Tiziano, additional, Barba, Carmen, additional, Brilstra, Eva H, additional, van Jaarsveld, Richard H, additional, Matsumoto, Naomichi, additional, Rodan, Lance H, additional, McWalter, Kirsty, additional, Guerrini, Renzo, additional, Scheffer, Ingrid E, additional, Mefford, Heather C, additional, Mandelstam, Simone, additional, Laux, Linda, additional, Millichap, John J, additional, Guemez-Gamboa, Alicia, additional, Nairn, Angus C, additional, and Carvill, Gemma L, additional

Published
2021
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31. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Author

ZL Kinder Ner en Nec Medisch, Brain, Genetica Groep Koeleman, Child Health, Circulatory Health, Cancer, Genetica Klinische Genetica, Carvill, Gemma L, Helbig, Katherine L, Myers, Candace T, Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N, Guida, Brandon S, Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A, Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O, Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G, Caruso, Paul A, Lin, Angela E, Jansen, Floor E, Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H, Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie-Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E, Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla-Lopez, Sergio, Mefford, Heather C, Kruer, Michael C, ZL Kinder Ner en Nec Medisch, Brain, Genetica Groep Koeleman, Child Health, Circulatory Health, Cancer, Genetica Klinische Genetica, Carvill, Gemma L, Helbig, Katherine L, Myers, Candace T, Scala, Marcello, Huether, Robert, Lewis, Sara, Kruer, Tyler N, Guida, Brandon S, Bakhtiari, Somayeh, Sebe, Joy, Tang, Sha, Stickney, Heather, Oktay, Sehribani Ulusoy, Bhandiwad, Ashwin A, Ramsey, Keri, Narayanan, Vinodh, Feyma, Timothy, Rohena, Luis O, Accogli, Andrea, Severino, Mariasavina, Hollingsworth, Georgina, Gill, Deepak, Depienne, Christel, Nava, Caroline, Sadleir, Lynette G, Caruso, Paul A, Lin, Angela E, Jansen, Floor E, Koeleman, Bobby, Brilstra, Eva, Willemsen, Marjolein H, Kleefstra, Tjitske, Sa, Joaquim, Mathieu, Marie-Laure, Perrin, Laurine, Lesca, Gaetan, Striano, Pasquale, Casari, Giorgio, Scheffer, Ingrid E, Raible, David, Sattlegger, Evelyn, Capra, Valeria, Padilla-Lopez, Sergio, Mefford, Heather C, and Kruer, Michael C

Published
2020

32. Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene,SZT2

Author

Calhoun, Jeffrey D, primary, Aziz, Miriam C, additional, Happ, Hannah C, additional, Gunti, Jonathan, additional, Gleason, Colleen, additional, Mohamed, Najma, additional, Zeng, Kristy, additional, Hiller, Meredith, additional, Bryant, Emily, additional, Mithal, Divakar, additional, Bellinski, Irena, additional, Kinsley, Lisa, additional, Grimmel, Mona, additional, Schwaibold, Eva MC, additional, Smith-Hicks, Constance, additional, Chassevent, Anna, additional, Scala, Marcello, additional, Accogli, Andrea, additional, Torella, Annalaura, additional, Striano, Pasquale, additional, Capra, Valeria, additional, Bird, Lynne M., additional, Ben-Sahra, Issam, additional, Ekhilevich, Nina, additional, Hershkovitz, Tova, additional, Weiss, Karin, additional, Millichap, John, additional, Gerard, Elizabeth E, additional, and Carvill, Gemma L, additional

Published
2021
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36. Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.

Author

Demarest, Scott, Calhoun, Jeff, Eschbach, Krista, Yu, Hung‐Chun, Mirsky, David, Angione, Katie, Shaikh, Tamim H, Carvill, Gemma L, Benke, Tim A, Geiger, Elizabeth A, Gunti, Jonathan, and Vanderveen, Gina

Subjects
INFANTILE spasms, ADRENOCORTICOTROPIC hormone, HORMONE therapy, ETIOLOGY of diseases, NEUROLOGICAL disorders, RECESSIVE genes
Abstract

Aim: To identify additional genes associated with infantile spasms using a cohort with defined infantile spasms. Method: Whole‐exome sequencing (WES) was performed on 21 consented individuals with infantile spasms and their unaffected parents (a trio‐based study). Clinical history and imaging were reviewed. Potentially deleterious exonic variants were identified and segregated. To refine potential candidates, variants were further prioritized on the basis of evidence for relevance to disease phenotype or known associations with infantile spasms, epilepsy, or neurological disease. Results: Likely pathogenic de novo variants were identified in NR2F1, GNB1, NEUROD2, GABRA2, and NDUFAF5. Suggestive dominant and recessive candidate variants were identified in PEMT, DYNC1I1, ASXL1, RALGAPB, and STRADA; further confirmation is required to support their relevance to disease etiology. Interpretation: This study supports the utility of WES in uncovering the genetic etiology in undiagnosed individuals with infantile spasms with an overall yield of five out of 21. High‐priority candidates were identified in an additional five individuals. WES provides additional support for previously described disease‐associated genes and expands their already broad mutational and phenotypic spectrum. [ABSTRACT FROM AUTHOR]

Published
2022
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39. Bi-allelic variants inTSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia

Author

Mencacci, Niccolò E., primary, Brockmann, Marisa M., additional, Dai, Jinye, additional, Pajusalu, Sander, additional, Atasu, Burcu, additional, Gonzalez-Latapi, Paulina, additional, Patzke, Christopher, additional, Schwake, Michael, additional, Tucci, Arianna, additional, Pittman, Alan, additional, Simon-Sanchez, Javier, additional, Carvill, Gemma L., additional, Balint, Bettina, additional, Wiethoff, Sarah, additional, Warner, Thomas T., additional, Papandreou, Apostolos, additional, Soo, Audrey, additional, Rein, Reet, additional, Kadastik-Eerme, Liis, additional, Puusepp, Sanna, additional, Reinson, Karit, additional, Tomberg, Tiiu, additional, Campos, Joaquin, additional, Pino, Gabriela, additional, Hanagasi, Hasmet, additional, Gasser, Thomas, additional, Bhatia, Kailash P., additional, Kurian, Manju A., additional, Lohmann, Ebba, additional, Õunap, Katrin, additional, Rosenmund, Christian, additional, Südhof, Thomas C., additional, Wood, Nicholas W., additional, Krainc, Dimitri, additional, and Acuna, Claudio, additional

Published
2020
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42. CACNA1H variants are not a cause of monogenic epilepsy

Author

Calhoun, Jeffrey D., primary, Huffman, Alexandra M., additional, Bellinski, Irena, additional, Kinsley, Lisa, additional, Bachman, Elizabeth, additional, Gerard, Elizabeth, additional, Kearney, Jennifer A., additional, and Carvill, Gemma L., additional

Published
2020
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44. Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

Author

Carvill, Gemma L., primary, Helbig, Katherine L., additional, Myers, Candace T., additional, Scala, Marcello, additional, Huether, Robert, additional, Lewis, Sara, additional, Kruer, Tyler N., additional, Guida, Brandon S., additional, Bakhtiari, Somayeh, additional, Sebe, Joy, additional, Tang, Sha, additional, Stickney, Heather, additional, Oktay, Sehribani Ulusoy, additional, Bhandiwad, Ashwin A., additional, Ramsey, Keri, additional, Narayanan, Vinodh, additional, Feyma, Timothy, additional, Rohena, Luis O., additional, Accogli, Andrea, additional, Severino, Mariasavina, additional, Hollingsworth, Georgina, additional, Gill, Deepak, additional, Depienne, Christel, additional, Nava, Caroline, additional, Sadleir, Lynette G., additional, Caruso, Paul A., additional, Lin, Angela E., additional, Jansen, Floor E., additional, Koeleman, Bobby, additional, Brilstra, Eva, additional, Willemsen, Marjolein H., additional, Kleefstra, Tjitske, additional, Sa, Joaquim, additional, Mathieu, Marie‐Laure, additional, Perrin, Laurine, additional, Lesca, Gaetan, additional, Striano, Pasquale, additional, Casari, Giorgio, additional, Scheffer, Ingrid E., additional, Raible, David, additional, Sattlegger, Evelyn, additional, Capra, Valeria, additional, Padilla‐Lopez, Sergio, additional, Mefford, Heather C., additional, and Kruer, Michael C., additional

Published
2020
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45. Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force

Author

Kobow, Katja, additional, Reid, Christopher A., additional, van Vliet, Erwin A., additional, Becker, Albert J., additional, Carvill, Gemma L., additional, Goldman, Alica M., additional, Hirose, Shinichi, additional, Lopes-Cendes, Iscia, additional, Khiari, Hela Mrabet, additional, Poduri, Annapurna, additional, Johnson, Michael R., additional, and Henshall, David C., additional

Published
2020
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47. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author

Gorman, Kathleen M, Meyer, Esther, Grozeva, Detelina, Spinelli, Egidio, McTague, Amy, Sanchis-Juan, Alba, Carss, Keren J, Bryant, Emily, Reich, Adi, Schneider, Amy L, Pressler, Ronit M, Simpson, Michael A, Debelle, Geoff D, Wassmer, Evangeline, Morton, Jenny, Sieciechowicz, Diana, Jan-Kamsteeg, Eric, Paciorkowski, Alex R, King, Mary D, Cross, J Helen, Poduri, Annapurna, Mefford, Heather C, Scheffer, Ingrid E, Haack, Tobias B, McCullagh, Gary, Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Millichap, John J, Carvill, Gemma L, Clayton-Smith, Jill, Maher, Eamonn R, Raymond, F Lucy, Kurian, Manju A, Maher, Eamonn [0000-0002-6226-6918], and Apollo - University of Cambridge Repository

Subjects
CACNA1B, epilepsy, epilepsy-dyskinesia, health care economics and organizations, developmental and epileptic encephalopathy (DEE)
Abstract

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.

Published
2019

48. Genetic Mosaicism in Calmodulinopathy

Author

Wren, Lisa M., primary, Jiménez-Jáimez, Juan, additional, Al-Ghamdi, Saleh, additional, Al-Aama, Jumana Y., additional, Bdeir, Amnah, additional, Al-Hassnan, Zuhair N., additional, Kuan, Jyn L., additional, Foo, Roger Y., additional, Potet, Franck, additional, Johnson, Christopher N., additional, Aziz, Miriam C., additional, Carvill, Gemma L., additional, Kaski, Juan-Pablo, additional, Crotti, Lia, additional, Perin, Francesca, additional, Monserrat, Lorenzo, additional, Burridge, Paul W., additional, Schwartz, Peter J., additional, Chazin, Walter J., additional, Bhuiyan, Zahurul A., additional, and George, Alfred L., additional

Published
2019
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50. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author

Gorman, Kathleen M., primary, Meyer, Esther, additional, Grozeva, Detelina, additional, Spinelli, Egidio, additional, McTague, Amy, additional, Sanchis-Juan, Alba, additional, Carss, Keren J., additional, Bryant, Emily, additional, Reich, Adi, additional, Schneider, Amy L., additional, Pressler, Ronit M., additional, Simpson, Michael A., additional, Debelle, Geoff D., additional, Wassmer, Evangeline, additional, Morton, Jenny, additional, Sieciechowicz, Diana, additional, Jan-Kamsteeg, Eric, additional, Paciorkowski, Alex R., additional, King, Mary D., additional, Cross, J. Helen, additional, Poduri, Annapurna, additional, Mefford, Heather C., additional, Scheffer, Ingrid E., additional, Haack, Tobias B., additional, McCullagh, Gary, additional, Millichap, John J., additional, Carvill, Gemma L., additional, Clayton-Smith, Jill, additional, Maher, Eamonn R., additional, Raymond, F. Lucy, additional, Kurian, Manju A., additional, McRae, Jeremy F., additional, Clayton, Stephen, additional, Fitzgerald, Tomas W., additional, Kaplanis, Joanna, additional, Prigmore, Elena, additional, Rajan, Diana, additional, Sifrim, Alejandro, additional, Aitken, Stuart, additional, Akawi, Nadia, additional, Alvi, Mohsan, additional, Ambridge, Kirsty, additional, Barrett, Daniel M., additional, Bayzetinova, Tanya, additional, Jones, Philip, additional, Jones, Wendy D., additional, King, Daniel, additional, Krishnappa, Netravathi, additional, Mason, Laura E., additional, Singh, Tarjinder, additional, Tivey, Adrian R., additional, Ahmed, Munaza, additional, Anjum, Uruj, additional, Archer, Hayley, additional, Armstrong, Ruth, additional, Awada, Jana, additional, Balasubramanian, Meena, additional, Banka, Siddharth, additional, Baralle, Diana, additional, Barnicoat, Angela, additional, Batstone, Paul, additional, Baty, David, additional, Bennett, Chris, additional, Berg, Jonathan, additional, Bernhard, Birgitta, additional, Bevan, A. Paul, additional, Bitner-Glindzicz, Maria, additional, Blair, Edward, additional, Blyth, Moira, additional, Bohanna, David, additional, Bourdon, Louise, additional, Bourn, David, additional, Bradley, Lisa, additional, Brady, Angela, additional, Brent, Simon, additional, Brewer, Carole, additional, Brunstrom, Kate, additional, Bunyan, David J., additional, Burn, John, additional, Canham, Natalie, additional, Castle, Bruce, additional, Chandler, Kate, additional, Chatzimichali, Elena, additional, Cilliers, Deirdre, additional, Clarke, Angus, additional, Clasper, Susan, additional, Clowes, Virginia, additional, Coates, Andrea, additional, Cole, Trevor, additional, Colgiu, Irina, additional, Collins, Amanda, additional, Collinson, Morag N., additional, Connell, Fiona, additional, Cooper, Nicola, additional, Cox, Helen, additional, Cresswell, Lara, additional, Cross, Gareth, additional, Crow, Yanick, additional, D’Alessandro, Mariella, additional, Dabir, Tabib, additional, Davidson, Rosemarie, additional, Davies, Sally, additional, de Vries, Dylan, additional, Dean, John, additional, Deshpande, Charu, additional, Devlin, Gemma, additional, Dixit, Abhijit, additional, Dobbie, Angus, additional, Donaldson, Alan, additional, Donnai, Dian, additional, Donnelly, Deirdre, additional, Donnelly, Carina, additional, Douglas, Angela, additional, Douzgou, Sofia, additional, Duncan, Alexis, additional, Eason, Jacqueline, additional, Ellard, Sian, additional, Ellis, Ian, additional, Elmslie, Frances, additional, Evans, Karenza, additional, Everest, Sarah, additional, Fendick, Tina, additional, Fisher, Richard, additional, Flinter, Frances, additional, Foulds, Nicola, additional, Fry, Andrew, additional, Fryer, Alan, additional, Gardiner, Carol, additional, Gaunt, Lorraine, additional, Ghali, Neeti, additional, Gibbons, Richard, additional, Gill, Harinder, additional, Goodship, Judith, additional, Goudie, David, additional, Gray, Emma, additional, Green, Andrew, additional, Greene, Philip, additional, Greenhalgh, Lynn, additional, Gribble, Susan, additional, Harrison, Rachel, additional, Harrison, Lucy, additional, Harrison, Victoria, additional, Hawkins, Rose, additional, He, Liu, additional, Hellens, Stephen, additional, Henderson, Alex, additional, Hewitt, Sarah, additional, Hildyard, Lucy, additional, Hobson, Emma, additional, Holden, Simon, additional, Holder, Muriel, additional, Holder, Susan, additional, Hollingsworth, Georgina, additional, Homfray, Tessa, additional, Humphreys, Mervyn, additional, Hurst, Jane, additional, Hutton, Ben, additional, Ingram, Stuart, additional, Irving, Melita, additional, Islam, Lily, additional, Jackson, Andrew, additional, Jarvis, Joanna, additional, Jenkins, Lucy, additional, Johnson, Diana, additional, Jones, Elizabeth, additional, Josifova, Dragana, additional, Joss, Shelagh, additional, Kaemba, Beckie, additional, Kazembe, Sandra, additional, Kelsell, Rosemary, additional, Kerr, Bronwyn, additional, Kingston, Helen, additional, Kini, Usha, additional, Kinning, Esther, additional, Kirby, Gail, additional, Kirk, Claire, additional, Kivuva, Emma, additional, Kraus, Alison, additional, Kumar, Dhavendra, additional, Kumar, V. K. Ajith, additional, Lachlan, Katherine, additional, Lam, Wayne, additional, Lampe, Anne, additional, Langman, Caroline, additional, Lees, Melissa, additional, Lim, Derek, additional, Longman, Cheryl, additional, Lowther, Gordon, additional, Lynch, Sally A., additional, Magee, Alex, additional, Maher, Eddy, additional, Male, Alison, additional, Mansour, Sahar, additional, Marks, Karen, additional, Martin, Katherine, additional, Maye, Una, additional, McCann, Emma, additional, McConnell, Vivienne, additional, McEntagart, Meriel, additional, McGowan, Ruth, additional, McKay, Kirsten, additional, McKee, Shane, additional, McMullan, Dominic J., additional, McNerlan, Susan, additional, McWilliam, Catherine, additional, Mehta, Sarju, additional, Metcalfe, Kay, additional, Middleton, Anna, additional, Miedzybrodzka, Zosia, additional, Miles, Emma, additional, Mohammed, Shehla, additional, Montgomery, Tara, additional, Moore, David, additional, Morgan, Sian, additional, Mugalaasi, Hood, additional, Murday, Victoria, additional, Murphy, Helen, additional, Naik, Swati, additional, Nemeth, Andrea, additional, Nevitt, Louise, additional, Newbury-Ecob, Ruth, additional, Norman, Andrew, additional, O’Shea, Rosie, additional, Ogilvie, Caroline, additional, Ong, Kai-Ren, additional, Park, Soo-Mi, additional, Parker, Michael J., additional, Patel, Chirag, additional, Paterson, Joan, additional, Payne, Stewart, additional, Perrett, Daniel, additional, Phipps, Julie, additional, Pilz, Daniela T., additional, Pollard, Martin, additional, Pottinger, Caroline, additional, Poulton, Joanna, additional, Pratt, Norman, additional, Prescott, Katrina, additional, Price, Sue, additional, Pridham, Abigail, additional, Procter, Annie, additional, Purnell, Hellen, additional, Quarrell, Oliver, additional, Ragge, Nicola, additional, Rahbari, Raheleh, additional, Randall, Josh, additional, Rankin, Julia, additional, Raymond, Lucy, additional, Rice, Debbie, additional, Robert, Leema, additional, Roberts, Eileen, additional, Roberts, Jonathan, additional, Roberts, Paul, additional, Roberts, Gillian, additional, Ross, Alison, additional, Rosser, Elisabeth, additional, Saggar, Anand, additional, Samant, Shalaka, additional, Sampson, Julian, additional, Sandford, Richard, additional, Sarkar, Ajoy, additional, Schweiger, Susann, additional, Scott, Richard, additional, Scurr, Ingrid, additional, Selby, Ann, additional, Seller, Anneke, additional, Sequeira, Cheryl, additional, Shannon, Nora, additional, Sharif, Saba, additional, Shaw-Smith, Charles, additional, Shearing, Emma, additional, Shears, Debbie, additional, Sheridan, Eamonn, additional, Simonic, Ingrid, additional, Singzon, Roldan, additional, Skitt, Zara, additional, Smith, Audrey, additional, Smith, Kath, additional, Smithson, Sarah, additional, Sneddon, Linda, additional, Splitt, Miranda, additional, Squires, Miranda, additional, Stewart, Fiona, additional, Stewart, Helen, additional, Straub, Volker, additional, Suri, Mohnish, additional, Sutton, Vivienne, additional, Swaminathan, Ganesh Jawahar, additional, Sweeney, Elizabeth, additional, Tatton-Brown, Kate, additional, Taylor, Cat, additional, Taylor, Rohan, additional, Tein, Mark, additional, Temple, I. Karen, additional, Thomson, Jenny, additional, Tischkowitz, Marc, additional, Tomkins, Susan, additional, Torokwa, Audrey, additional, Treacy, Becky, additional, Turner, Claire, additional, Turnpenny, Peter, additional, Tysoe, Carolyn, additional, Vandersteen, Anthony, additional, Varghese, Vinod, additional, Vasudevan, Pradeep, additional, Vijayarangakannan, Parthiban, additional, Vogt, Julie, additional, Wakeling, Emma, additional, Wallwark, Sarah, additional, Waters, Jonathon, additional, Weber, Astrid, additional, Wellesley, Diana, additional, Whiteford, Margo, additional, Widaa, Sara, additional, Wilcox, Sarah, additional, Wilkinson, Emily, additional, Williams, Denise, additional, Williams, Nicola, additional, Wilson, Louise, additional, Woods, Geoff, additional, Wragg, Christopher, additional, Wright, Michael, additional, Yates, Laura, additional, Yau, Michael, additional, Nellåker, Chris, additional, Parker, Michael, additional, Firth, Helen V., additional, Wright, Caroline F., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, Hurles, Matthew E., additional, Al Turki, Saeed, additional, Anderson, Carl, additional, Anney, Richard, additional, Antony, Dinu, additional, Artigas, Maria Soler, additional, Ayub, Muhammad, additional, Balasubramaniam, Senduran, additional, Barroso, Inês, additional, Beales, Phil, additional, Bentham, Jamie, additional, Bhattacharya, Shoumo, additional, Birney, Ewan, additional, Blackwood, Douglas, additional, Bobrow, Martin, additional, Bochukova, Elena, additional, Bolton, Patrick, additional, Bounds, Rebecca, additional, Boustred, Chris, additional, Breen, Gerome, additional, Calissano, Mattia, additional, Carss, Keren, additional, Chatterjee, Krishna, additional, Chen, Lu, additional, Ciampi, Antonio, additional, Cirak, Sebhattin, additional, Clapham, Peter, additional, Clement, Gail, additional, Coates, Guy, additional, Collier, David, additional, Cosgrove, Catherine, additional, Cox, Tony, additional, Craddock, Nick, additional, Crooks, Lucy, additional, Curran, Sarah, additional, Curtis, David, additional, Daly, Allan, additional, Day-Williams, Aaron, additional, Day, Ian N.M., additional, Down, Thomas, additional, Du, Yuanping, additional, Dunham, Ian, additional, Edkins, Sarah, additional, Ellis, Peter, additional, Evans, David, additional, Faroogi, Sadaf, additional, Fatemifar, Ghazaleh, additional, Fitzpatrick, David R., additional, Flicek, Paul, additional, Flyod, James, additional, Foley, A. Reghan, additional, Franklin, Christopher S., additional, Futema, Marta, additional, Gallagher, Louise, additional, Geihs, Matthias, additional, Geschwind, Daniel, additional, Griffin, Heather, additional, Guo, Xueqin, additional, Guo, Xiaosen, additional, Gurling, Hugh, additional, Hart, Deborah, additional, Hendricks, Audrey, additional, Holmans, Peter, additional, Howie, Bryan, additional, Huang, Liren, additional, Hubbard, Tim, additional, Humphries, Steve E., additional, Hysi, Pirro, additional, Jackson, David K., additional, Jamshidi, Yalda, additional, Jing, Tian, additional, Joyce, Chris, additional, Kaye, Jane, additional, Keane, Thomas, additional, Keogh, Julia, additional, Kemp, John, additional, Kennedy, Karen, additional, Kolb-Kokocinski, Anja, additional, Lachance, Genevieve, additional, Langford, Cordelia, additional, Lawson, Daniel, additional, Lee, Irene, additional, Lek, Monkol, additional, Liang, Jieqin, additional, Lin, Hong, additional, Li, Rui, additional, Li, Yingrui, additional, Liu, Ryan, additional, Lönnqvist, Jouko, additional, Lopes, Margarida, additional, Iotchkova, Valentina, additional, MacArthur, Daniel, additional, Marchini, Jonathan, additional, Maslen, John, additional, Massimo, Mangino, additional, Mathieson, Iain, additional, Marenne, Gaëlle, additional, McGuffin, Peter, additional, McIntosh, Andrew, additional, McKechanie, Andrew G., additional, McQuillin, Andrew, additional, Metrustry, Sarah, additional, Mitchison, Hannah, additional, Moayyeri, Alireza, additional, Morris, James, additional, Muntoni, Francesco, additional, Northstone, Kate, additional, O'Donnovan, Michael, additional, Onoufriadis, Alexandros, additional, O'Rahilly, Stephen, additional, Oualkacha, Karim, additional, Owen, Michael J., additional, Palotie, Aarno, additional, Panoutsopoulou, Kalliope, additional, Parker, Victoria, additional, Parr, Jeremy R., additional, Paternoster, Lavinia, additional, Paunio, Tiina, additional, Payne, Felicity, additional, Pietilainen, Olli, additional, Plagnol, Vincent, additional, Quaye, Lydia, additional, Quail, Michael A., additional, Rehnström, Karola, additional, Ring, Susan, additional, Ritchie, Graham R.S., additional, Roberts, Nicola, additional, Savage, David B., additional, Scambler, Peter, additional, Schiffels, Stephen, additional, Schmidts, Miriam, additional, Schoenmakers, Nadia, additional, Semple, Robert K., additional, Serra, Eva, additional, Sharp, Sally I., additional, Shin, So-Youn, additional, Skuse, David, additional, Small, Kerrin, additional, Southam, Lorraine, additional, Spasic-Boskovic, Olivera, additional, St Clair, David, additional, Stalker, Jim, additional, Stevens, Elizabeth, additional, St Pourcian, Beate, additional, Sun, Jianping, additional, Suvisaari, Jaana, additional, Tachmazidou, Ionna, additional, Tobin, Martin D., additional, Valdes, Ana, additional, Van Kogelenberg, Margriet, additional, Visscher, Peter M., additional, Wain, Louise V., additional, Walters, James T.R., additional, Wang, Guangbiao, additional, Wang, Jun, additional, Wang, Yu, additional, Ward, Kirsten, additional, Wheeler, Elanor, additional, Whyte, Tamieka, additional, Williams, Hywel, additional, Williamson, Kathleen A., additional, Wilson, Crispian, additional, Wong, Kim, additional, Xu, ChangJiang, additional, Yang, Jian, additional, Zhang, Fend, additional, Zhang, Pingbo, additional, Aitman, Timothy, additional, Alachkar, Hana, additional, Ali, Sonia, additional, Allen, Louise, additional, Allsup, David, additional, Ambegaonkar, Gautum, additional, Anderson, Julie, additional, Antrobus, Richard, additional, Arno, Gavin, additional, Arumugakani, Gururaj, additional, Ashford, Sofie, additional, Astle, William, additional, Attwood, Antony, additional, Austin, Steve, additional, Bacchelli, Chiara, additional, Bakchoul, Tamam, additional, Bariana, Tadbir K., additional, Baxendale, Helen, additional, Bennett, David, additional, Bethune, Claire, additional, Bibi, Shahnaz, additional, Bleda, Marta, additional, Boggard, Harm, additional, Bolton-Maggs, Paula, additional, Booth, Claire, additional, Bradley, John R., additional, Brady, Angie, additional, Brown, Matthew, additional, Browning, Michael, additional, Bryson, Christine, additional, Burns, Siobhan, additional, Calleja, Paul, additional, Carmichael, Jenny, additional, Caulfield, Mark, additional, Chalmers, Elizabeth, additional, Chandra, Anita, additional, Chinnery, Patrick, additional, Chitre, Manali, additional, Church, Colin, additional, Clement, Emma, additional, Clements-Brod, Naomi, additional, Coghlan, Gerry, additional, Collins, Peter, additional, Cooper, Nichola, additional, Creaser-Myers, Amanda, additional, DaCosta, Rosa, additional, Daugherty, Louise, additional, Davies, Sophie, additional, Davis, John, additional, De Vries, Minka, additional, Deegan, Patrick, additional, Deevi, Sri V.V., additional, Devlin, Lisa, additional, Dewhurst, Eleanor, additional, Doffinger, Rainer, additional, Dormand, Natalie, additional, Drewe, Elizabeth, additional, Edgar, David, additional, Egner, William, additional, Erber, Wendy N., additional, Erwood, Marie, additional, Everington, Tamara, additional, Favier, Remi, additional, Firth, Helen, additional, Fletcher, Debra, additional, Fox, James C., additional, Frary, Amy, additional, Freson, Kathleen, additional, Furie, Bruce, additional, Furnell, Abigail, additional, Gale, Daniel, additional, Gardham, Alice, additional, Gattens, Michael, additional, Ghataorhe, Pavandeep K., additional, Ghurye, Rohit, additional, Gibbs, Simon, additional, Gilmour, Kimberley, additional, Gissen, Paul, additional, Goddard, Sarah, additional, Gomez, Keith, additional, Gordins, Pavel, additional, Gräf, Stefan, additional, Greene, Daniel, additional, Greenhalgh, Alan, additional, Greinacher, Andreas, additional, Grigoriadou, Sofia, additional, Hackett, Scott, additional, Hadinnapola, Charaka, additional, Hague, Rosie, additional, Haimel, Matthias, additional, Halmagyi, Csaba, additional, Hammerton, Tracey, additional, Hart, Daniel, additional, Hayman, Grant, additional, Heemskerk, Johan W.M., additional, Henderson, Robert, additional, Hensiek, Anke, additional, Henskens, Yvonne, additional, Herwadkar, Archana, additional, Hu, Fengyuan, additional, Huissoon, Aarnoud, additional, Humbert, Marc, additional, James, Roger, additional, Jolles, Stephen, additional, Kazmi, Rashid, additional, Keeling, David, additional, Kelleher, Peter, additional, Kelly, Anne M., additional, Kennedy, Fiona, additional, Kiely, David, additional, Kingston, Nathalie, additional, Koziell, Ania, additional, Krishnakumar, Deepa, additional, Kuijpers, Taco W., additional, Kumararatne, Dinakantha, additional, Kurian, Manju, additional, Laffan, Michael A., additional, Lambert, Michele P., additional, Allen, Hana Lango, additional, Lawrie, Allan, additional, Lear, Sara, additional, Lentaigne, Claire, additional, Liesner, Ri, additional, Linger, Rachel, additional, Longhurst, Hilary, additional, Lorenzo, Lorena, additional, Machado, Rajiv, additional, Mackenzie, Rob, additional, MacLaren, Robert, additional, Maher, Eamonn, additional, Maimaris, Jesmeen, additional, Mangles, Sarah, additional, Manson, Ania, additional, Mapeta, Rutendo, additional, Markus, Hugh S., additional, Martin, Jennifer, additional, Masati, Larahmie, additional, Mathias, Mary, additional, Matser, Vera, additional, Maw, Anna, additional, McDermott, Elizabeth, additional, McJannet, Coleen, additional, Meacham, Stuart, additional, Meehan, Sharon, additional, Megy, Karyn, additional, Michaelides, Michel, additional, Millar, Carolyn M., additional, Moledina, Shahin, additional, Moore, Anthony, additional, Morrell, Nicholas, additional, Mumford, Andrew, additional, Murng, Sai, additional, Murphy, Elaine, additional, Nejentsev, Sergey, additional, Noorani, Sadia, additional, Nurden, Paquita, additional, Oksenhendler, Eric, additional, Ouwehand, Willem H., additional, Papadia, Sofia, additional, Parker, Alasdair, additional, Pasi, John, additional, Patch, Chris, additional, Payne, Jeanette, additional, Peacock, Andrew, additional, Peerlinck, Kathelijne, additional, Penkett, Christopher J., additional, Pepke-Zaba, Joanna, additional, Perry, David J., additional, Pollock, Val, additional, Polwarth, Gary, additional, Ponsford, Mark, additional, Qasim, Waseem, additional, Quinti, Isabella, additional, Rankin, Stuart, additional, Rehnstrom, Karola, additional, Reid, Evan, additional, Rhodes, Christopher J., additional, Richards, Michael, additional, Richardson, Sylvia, additional, Richter, Alex, additional, Roberts, Irene, additional, Rondina, Matthew, additional, Roughley, Catherine, additional, Rue-Albrecht, Kevin, additional, Samarghitean, Crina, additional, Santra, Saikat, additional, Sargur, Ravishankar, additional, Savic, Sinisa, additional, Schulman, Sol, additional, Schulze, Harald, additional, Scully, Marie, additional, Seneviratne, Suranjith, additional, Sewell, Carrock, additional, Shamardina, Olga, additional, Shipley, Debbie, additional, Simeoni, Ilenia, additional, Sivapalaratnam, Suthesh, additional, Smith, Kenneth, additional, Sohal, Aman, additional, Southgate, Laura, additional, Staines, Simon, additional, Staples, Emily, additional, Stauss, Hans, additional, Stein, Penelope, additional, Stephens, Jonathan, additional, Stirrups, Kathleen, additional, Stock, Sophie, additional, Suntharalingam, Jay, additional, Tait, R. Campbell, additional, Talks, Kate, additional, Tan, Yvonne, additional, Thachil, Jecko, additional, Thaventhiran, James, additional, Thomas, Ellen, additional, Thomas, Moira, additional, Thompson, Dorothy, additional, Thrasher, Adrian, additional, Titterton, Catherine, additional, Toh, Cheng-Hock, additional, Toshner, Mark, additional, Treacy, Carmen, additional, Trembath, Richard, additional, Tuna, Salih, additional, Turek, Wojciech, additional, Turro, Ernest, additional, Van Geet, Chris, additional, Veltman, Marijke, additional, von Ziegenweldt, Julie, additional, Vonk Noordegraaf, Anton, additional, Wanjiku, Ivy, additional, Warner, Timothy Q., additional, Watkins, Hugh, additional, Webster, Andrew, additional, Welch, Steve, additional, Westbury, Sarah, additional, Wharton, John, additional, Whitehorn, Deborah, additional, Wilkins, Martin, additional, Willcocks, Lisa, additional, Williamson, Catherine, additional, Woods, Geoffrey, additional, Wort, John, additional, Yeatman, Nigel, additional, Yong, Patrick, additional, Young, Tim, additional, and Yu, Ping, additional

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2019
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