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1. Factor Associated with the Occurrence of Epilepsy in Autism: A Systematic Review

Author

Zarakoviti, Eleni, Shafran, Roz, Skuse, David, McTague, Amy, Batura, Neha, Palmer, Tom, Dalrymple, Emma, Bennett, Sophie D., and Reilly, Colin

Abstract

This systematic review aimed to identify factors significantly associated with the occurrence of epilepsy in autistic individuals and to consider the impact of study quality on findings. Electronic databases were systematically searched on October 2nd, 2020 and records retrieved were limited to those published from 2000 onwards. Study quality was categorised as 'good', 'moderate' or 'weak'. Fifty-three studies were included and in studies where the prevalence of epilepsy was reported (n = 257,892), 18,254 (7%) had co-occurring epilepsy. Intellectual disability/cognitive impairment was the most commonly reported risk factor associated with occurrence of epilepsy in autistic individuals. The evidence supporting other, potentially relevant factors was weak and inconsistent and requires further evaluation. Only 9/53 studies were considered 'good' quality.

Published
2023
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4. Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

Author

AlMail, Ali, Jamjoom, Ahmed, Pan, Amy, Feng, Min Yi, Chau, Vann, D’Gama, Alissa M., Howell, Katherine, Liang, Nicole S. Y., McTague, Amy, Poduri, Annapurna, Wiltrout, Kimberly, Bassett, Anne S., Christodoulou, John, Dupuis, Lucie, Gill, Peter, Levy, Tess, Siper, Paige, Stark, Zornitza, Vorstman, Jacob A. S., Diskin, Catherine, Jewitt, Natalie, Baribeau, Danielle, and Costain, Gregory

Published
2024
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5. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Author

Palmer, Elizabeth, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan, Chedrawi, Aziza, Hashem, Mais, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer, Sands, Tristan, Wilson, Golder, Silvertooth, Erin, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein, Ockeloen, Charlotte, Pfundt, Rolph, Kroft, Sanne, Field, Michael, Laranjeira, Francisco, Fortuna, Ana, Soares, Ana, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David, Bird, Lynne, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe, Blazo, Maria, Bijlsma, Emilia, Rosenfeld, Jill, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb, Armstrong, Ruth, and Kalscheuer, Vera

Subjects
Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels
Abstract

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a shift of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.

Published
2023

8. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

Author

D'Gama, Alissa M, Mulhern, Sarah, Sheidley, Beth R, Boodhoo, Fadil, Buts, Sarah, Chandler, Natalie J, Cobb, Joanna, Curtis, Meredith, Higginbotham, Edward J, Holland, Jonathon, Khan, Tayyaba, Koh, Julia, Liang, Nicole S Y, McRae, Lyndsey, Nesbitt, Sarah E, Oby, Brandon T, Paternoster, Ben, Patton, Alistair, Rose, Graham, Scotchman, Elizabeth, Valentine, Rozalia, Wiltrout, Kimberly N, Hayeems, Robin Z, Jain, Puneet, Lunke, Sebastian, Marshall, Christian R, Rockowitz, Shira, Sebire, Neil J, Stark, Zornitza, White, Susan M, Chitty, Lyn S, Cross, J Helen, Scheffer, Ingrid E, Chau, Vann, Costain, Gregory, Poduri, Annapurna, Howell, Katherine B, and McTague, Amy

Published
2023
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9. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Author

Sanchis-Juan, Alba, Megy, Karyn, Stephens, Jonathan, Armirola Ricaurte, Camila, Dewhurst, Eleanor, Low, Kayyi, French, Courtney E., Grozeva, Detelina, Stirrups, Kathleen, Erwood, Marie, McTague, Amy, Penkett, Christopher J., Shamardina, Olga, Tuna, Salih, Daugherty, Louise C., Gleadall, Nicholas, Duarte, Sofia T., Hedrera-Fernández, Antonio, Vogt, Julie, Ambegaonkar, Gautam, Chitre, Manali, Josifova, Dragana, Kurian, Manju A., Parker, Alasdair, Rankin, Julia, Reid, Evan, Wakeling, Emma, Wassmer, Evangeline, Woods, C. Geoffrey, Raymond, F. Lucy, and Carss, Keren J.

Published
2023
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11. The molecular genetic investigation of epilepsy of infancy with migrating focal seizures

Author

McTague, Amy, Kurian, M. A., Kullmann, D. M., and Scott, R. O. D.

Abstract

Epilepsy of infancy with migrating focal seizures (EIMFS) is characterised by the onset of frequent focal seizures in the first 6 months of life, a typical migratory EEG pattern and severe developmental delay. In this thesis, I report a cohort of patients with EIMFS, delineate clinical features and investigate the molecular genetic basis of this syndrome. In 2012, heterozygous mutations in the sodium-gated potassium channel KCNT1, were described in patients with EIMFS. Using a variety of genetic techniques, I have identified 12 patients with mutations in this gene. Four are novel, previously unreported mutations. Functional investigations, including protein homology modelling and electrophysiology in a xenopus oocyte model showed that all novel KCNT1 variants were gain-of-function mutations. In addition, I describe a new genetic cause of EIMFS. Within my cohort, I identified a consanguineous family with two affected children. Autozygosity mapping and whole exome sequencing revealed a novel, homozygous mutation in SLC12A5. SLC12A5 encodes KCC2, the neuronal potassium chloride co-transporter that determines the direction and polarity of GABA-mediated signalling. Through international collaboration, I found a second family with two affected children harbouring compound heterozygous SLC12A5 mutations. All three SLC12A5 variants were investigated using an overexpression HEK293 cell model. Immunoblotting and immunohistochemistry revealed decreased cell surface expression of mutant KCC2. Electrophysiology experiments showed a depolarization of the chloride reversal potential and a delayed response to chloride loading. Taken together, these results indicate that loss of KCC2 function is likely to result in abnormal neuronal inhibition in this form of EIMFS. The genetic heterogeneity in EIMFS is strong evidence that a wide variety of different pathogenic mechanisms can result in the severe epilepsy and abnormal neurodevelopment observed in this condition. Further elucidation of causative genes in both animal and cell models is needed to identify novel therapeutic targets for this devastating disorder.

Published
2018

12. Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?

Author

Eriksson, Maria H, Prentice, Freya, Piper, Rory J, Wagstyl, Konrad, Adler, Sophie, Chari, Aswin, Booth, John, Moeller, Friederike, Das, Krishna, Eltze, Christin, Cooray, Gerald, Caballero, Ana Perez, Menzies, Lara, McTague, Amy, Shavel-Jessop, Sara, Tisdall, Martin M, Cross, J Helen, Sanfilippo, Patricia Martin, and Baldeweg, Torsten

Subjects
COGNITIVE processing speed, EPILEPSY surgery, CHILDREN with epilepsy, INTELLIGENCE tests, PARTIAL epilepsy, TEMPORAL lobectomy
Abstract

Neuropsychological impairments are common in children with drug-resistant epilepsy. It has been proposed that epilepsy surgery might alleviate these impairments by providing seizure freedom; however, findings from prior studies have been inconsistent. We mapped long-term neuropsychological trajectories in children before and after undergoing epilepsy surgery, to measure the impact of disease course and surgery on functioning. We performed a retrospective cohort study of 882 children who had undergone epilepsy surgery at Great Ormond Street Hospital (1990–2018). We extracted patient information and neuropsychological functioning [obtained from IQ tests (domains: full-scale IQ, verbal IQ, performance IQ, working memory and processing speed) and tests of academic attainment (reading, spelling and numeracy)] and investigated changes in functioning using regression analyses. We identified 500 children (248 females) who had undergone epilepsy surgery [median age at surgery = 11.9 years, interquartile range = (7.8, 15.0)] and neuropsychological assessment. These children showed declines in all domains of neuropsychological functioning in the time leading up to surgery (all P -values ≤0.001; e.g. βFSIQ = −1.9, SEFSIQ = 0.3, P FSIQ < 0.001). Children lost on average one to four points per year, depending on the domain considered; 27%–43% declined by ≥10 points from their first to their last preoperative assessment. At the time of presurgical evaluation, most children (46%–60%) scored one or more standard deviations below the mean (<85) on the different neuropsychological domains; 37% of these met the threshold for intellectual disability (full-scale IQ < 70). On a group level, there was no change in performance from pre- to postoperative assessment on any of the domains (all P -values ≥0.128). However, children who became seizure free through surgery showed higher postoperative neuropsychological performance (e.g. r rb-FSIQ = 0.37, P < 0.001). These children continued to demonstrate improvements in neuropsychological functioning over the course of their long-term follow-up (e.g. βFSIQ = 0.9, SEFSIQ = 0.3, P FSIQ = 0.004). Children who had discontinued antiseizure medication treatment at 1-year follow-up showed an 8- to 13-point advantage in postoperative working memory, processing speed and numeracy, and greater improvements in verbal IQ, working memory, reading and spelling (all P -values ≤0.034) over the postoperative period compared with children who were seizure free and still receiving antiseizure medication. In conclusion, by providing seizure freedom and the opportunity for antiseizure medication cessation, epilepsy surgery might not only halt but reverse the downward trajectory that children with drug-resistant epilepsy display in neuropsychological functioning. To halt this decline as soon as possible or, potentially, to prevent it from occurring in the first place, children with focal epilepsy should be considered for epilepsy surgery as early as possible after diagnosis. [ABSTRACT FROM AUTHOR]

Published
2024
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14. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Author

Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, and Janssens, Veerle

Published
2021
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16. Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes

Author

Eriksson, Maria H., primary, Whitaker, Kirstie J., additional, Booth, John, additional, Piper, Rory J., additional, Chari, Aswin, additional, Martin Sanfilippo, Patricia, additional, Caballero, Ana Perez, additional, Menzies, Lara, additional, McTague, Amy, additional, Adler, Sophie, additional, Wagstyl, Konrad, additional, Tisdall, Martin M., additional, Cross, J. Helen, additional, and Baldeweg, Torsten, additional

Published
2023
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17. SLC25A22 is a novel gene for migrating partial seizures in infancy

Author

Poduri, Annapurna, Heinzen, Erin L, Chitsazzadeh, Vida, Lasorsa, Francesco Massimo, Elhosary, P Christina, LaCoursiere, Christopher M, Martin, Emilie, Yuskaitis, Christopher J, Hill, Robert Sean, Atabay, Kutay Deniz, Barry, Brenda, Partlow, Jennifer N, Bashiri, Fahad A, Zeidan, Radwan M, Elmalik, Salah A, Kabiraj, Mohammad MU, Kothare, Sanjeev, Stödberg, Tommy, McTague, Amy, Kurian, Manju A, Scheffer, Ingrid E, Barkovich, A James, Palmieri, Ferdinando, Salih, Mustafa A, and Walsh, Christopher A

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Neurodegenerative, Human Genome, Biotechnology, Brain Disorders, Epilepsy, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Consanguinity, Epilepsy, Benign Neonatal, Exome, Female, Genetic Linkage, Humans, Infant, Newborn, Male, Mitochondrial Membrane Transport Proteins, Pedigree, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo identify a genetic cause for migrating partial seizures in infancy (MPSI).MethodsWe characterized a consanguineous pedigree with MPSI and obtained DNA from affected and unaffected family members. We analyzed single nucleotide polymorphism 500K data to identify regions with evidence of linkage. We performed whole exome sequencing and analyzed homozygous variants in regions of linkage to identify a candidate gene and performed functional studies of the candidate gene SLC25A22.ResultsIn a consanguineous pedigree with 2 individuals with MPSI, we identified 2 regions of linkage, chromosome 4p16.1-p16.3 and chromosome 11p15.4-pter. Using whole exome sequencing, we identified 8 novel homozygous variants in genes in these regions. Only 1 variant, SLC25A22 c.G328C, results in a change of a highly conserved amino acid (p.G110R) and was not present in control samples. SLC25A22 encodes a glutamate transporter with strong expression in the developing brain. We show that the specific G110R mutation, located in a transmembrane domain of the protein, disrupts mitochondrial glutamate transport.InterpretationWe have shown that MPSI can be inherited and have identified a novel homozygous mutation in SLC25A22 in the affected individuals. Our data strongly suggest that SLC25A22 is responsible for MPSI, a severe condition with few known etiologies. We have demonstrated that a combination of linkage analysis and whole exome sequencing can be used for disease gene discovery. Finally, as SLC25A22 had been implicated in the distinct syndrome of neonatal epilepsy with suppression bursts on electroencephalogram, we have expanded the phenotypic spectrum associated with SLC25A22.

Published
2013

18. P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

Author

Yan Liang, Nicole Si, Costain, Gregory, D'Gama, Alissa, McTague, Amy, Howell, Katherine, Chau, Vann, Mulhern, Sarah, Poduri, Annapurna, Scheffer, Ingrid, Sheidley, Beth, Curtis, Meredith, Higginbotham, Edward, Khan, Tayyaba, McRae, Lyndsey, Wiltrout, Kimberly, Hayeems, Robin, Jain, Puneet, Lunke, Sebastian, Marshall, Christian, Chitty, Lyn, Rockowitz, Shira, Stark, Zornitza, and White, Susan

Published
2024
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19. P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines

Author

AlMail, Ali, Jamjoom, Ahmed, Pan, Amy, Feng, Anna, Chau, Vann, D'Gama, Alissa, Howell, Katherine, Yan Liang, Nicole Si, McTague, Amy, Poduri, Annapurna, Wiltrout, Kimberly, Bassett, Anne, Christodoulou, John, Dupuis, Lucie, Gill, Peter, Levy, Tess, Siper, Paige, Stark, Zornitza, Vorstman, Jacob, Diskin, Catherine, Jewitt, Natalie, Baribeau, Danielle, and Costain, Gregory

Published
2024
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20. Predicting seizure outcome after epilepsy surgery: Do we need more complex models, larger samples, or better data?

Author

Eriksson, Maria H., primary, Ripart, Mathilde, additional, Piper, Rory J., additional, Moeller, Friederike, additional, Das, Krishna B., additional, Eltze, Christin, additional, Cooray, Gerald, additional, Booth, John, additional, Whitaker, Kirstie J., additional, Chari, Aswin, additional, Martin Sanfilippo, Patricia, additional, Perez Caballero, Ana, additional, Menzies, Lara, additional, McTague, Amy, additional, Tisdall, Martin M., additional, Cross, J. Helen, additional, Baldeweg, Torsten, additional, Adler, Sophie, additional, and Wagstyl, Konrad, additional

Published
2023
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21. Predicting seizure outcome after epilepsy surgery: do we need more complex models, larger samples, or better data?

Author

Eriksson, Maria H, primary, Ripart, Mathilde, additional, Piper, Rory J, additional, Moeller, Friederike, additional, Das, Krishna B, additional, Eltze, Christin, additional, Cooray, Gerald, additional, Booth, John, additional, Whitaker, Kirstie J, additional, Chari, Aswin, additional, Sanfilippo, Patricia Martin, additional, Caballero, Ana Perez, additional, Menzies, Lara, additional, McTague, Amy, additional, Tisdall, Martin M, additional, Cross, J Helen, additional, Baldeweg, Torsten, additional, Adler, Sophie, additional, and Wagstyl, Konrad, additional

Published
2023
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22. ILAE Genetics Literacy series: Progressive myoclonus epilepsies

Author

Cameron, Jillian M., Ellis, Colin A., Berkovic, Samuel F., Perucca, Piero, Cross, J. Helen, Lerche, Holger, Esterhuizen, Alina I., Lopes‐Cendes, Iscia, Tsai, Meng‐Han, Lowenstein, Daniel H., Tan, Nigel C. K., Helbig, Ingo, Mefford, Heather C., Brunklaus, Andreas, Lesca, Gaetan, Palmer, Elizabeth Emma, McTague, Amy, Fakhfakh, Faiza, Delanty, Norman, Lowenstein, Daniel H., Tan, Nigel C. K., and Esterhuizen, Alina I.

Abstract

Progressive Myoclonus Epilepsy (PME) is a rare epilepsy syndrome characterized by the development of progressively worsening myoclonus, ataxia, and seizures. A molecular diagnosis can now be established in approximately 80% of individuals with PME. Almost fifty genetic causes of PME have now been established, although some remain extremely rare. Herein, we provide a review of clinical phenotypes and genotypes of the more commonly encountered PMEs. Using an illustrative case example, we describe appropriate clinical investigation and therapeutic strategies to guide the management of this often relentlessly progressive and devastating epilepsy syndrome. This manuscript in the Genetic Literacy series maps to Learning Objective 1.2 of the ILAE Curriculum for Epileptology (Epileptic Disord. 2019;21:129).

Published
2023
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23. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Author

Palmer, Elizabeth E., primary, Pusch, Michael, additional, Picollo, Alessandra, additional, Forwood, Caitlin, additional, Nguyen, Matthew H., additional, Suckow, Vanessa, additional, Gibbons, Jessica, additional, Hoff, Alva, additional, Sigfrid, Lisa, additional, Megarbane, Andre, additional, Nizon, Mathilde, additional, Cogné, Benjamin, additional, Beneteau, Claire, additional, Alkuraya, Fowzan S., additional, Chedrawi, Aziza, additional, Hashem, Mais O., additional, Stamberger, Hannah, additional, Weckhuysen, Sarah, additional, Vanlander, Arnaud, additional, Ceulemans, Berten, additional, Rajagopalan, Sulekha, additional, Nunn, Kenneth, additional, Arpin, Stéphanie, additional, Raynaud, Martine, additional, Motter, Constance S., additional, Ward-Melver, Catherine, additional, Janssens, Katrien, additional, Meuwissen, Marije, additional, Beysen, Diane, additional, Dikow, Nicola, additional, Grimmel, Mona, additional, Haack, Tobias B., additional, Clement, Emma, additional, McTague, Amy, additional, Hunt, David, additional, Townshend, Sharron, additional, Ward, Michelle, additional, Richards, Linda J., additional, Simons, Cas, additional, Costain, Gregory, additional, Dupuis, Lucie, additional, Mendoza-Londono, Roberto, additional, Dudding-Byth, Tracy, additional, Boyle, Jackie, additional, Saunders, Carol, additional, Fleming, Emily, additional, El Chehadeh, Salima, additional, Spitz, Marie-Aude, additional, Piton, Amelie, additional, Gerard, Bénédicte, additional, Abi Warde, Marie-Thérèse, additional, Rea, Gillian, additional, McKenna, Caoimhe, additional, Douzgou, Sofia, additional, Banka, Siddharth, additional, Akman, Cigdem, additional, Bain, Jennifer M., additional, Sands, Tristan T., additional, Wilson, Golder N., additional, Silvertooth, Erin J., additional, Miller, Lauren, additional, Lederer, Damien, additional, Sachdev, Rani, additional, Macintosh, Rebecca, additional, Monestier, Olivier, additional, Karadurmus, Deniz, additional, Collins, Felicity, additional, Carter, Melissa, additional, Rohena, Luis, additional, Willemsen, Marjolein H., additional, Ockeloen, Charlotte W., additional, Pfundt, Rolph, additional, Kroft, Sanne D., additional, Field, Michael, additional, Laranjeira, Francisco E. R., additional, Fortuna, Ana M., additional, Soares, Ana R., additional, Michaud, Vincent, additional, Naudion, Sophie, additional, Golla, Sailaja, additional, Weaver, David D., additional, Bird, Lynne M., additional, Friedman, Jennifer, additional, Clowes, Virginia, additional, Joss, Shelagh, additional, Pölsler, Laura, additional, Campeau, Philippe M., additional, Blazo, Maria, additional, Bijlsma, Emilia K., additional, Rosenfeld, Jill A., additional, Beetz, Christian, additional, Powis, Zöe, additional, McWalter, Kirsty, additional, Brandt, Tracy, additional, Torti, Erin, additional, Mathot, Mikaël, additional, Mohammad, Shekeeb S., additional, Armstrong, Ruth, additional, and Kalscheuer, Vera M., additional

Published
2022
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25. Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

Author

McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling”, Cross, J. Helen, Topf, Maya, Petrou, Steven, and Kurian, Manju A.

Published
2018
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26. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Author

Brunklaus, Andreas, Brünger, Tobias, Feng, Tony, Fons, Carmen, Lehikoinen, Anni, Panagiotakaki, Eleni, Vintan, Mihaela-Adela, Symonds, Joseph, Andrew, James, Arzimanoglou, Alexis, Gallois, Julie, Delima, Sarah, Hanrahan, Donncha, Lesca, Gaetan, MacLeod, Stewart, Marjanovic, Dragan, McTague, Amy, Nuñez-Enamorado, Noemi, Perez-Palma, Eduardo, Perry, M. Scott, Pysden, Karen, Russ-Hall, Sophie J., Scheffer, Ingrid E., Sully, Krystal, Syrbe, Steffen, Vaher, Ulvi, Velayutham, Murugan, Vogt, Julie, Weiss, Shelly, Wirrell, Elaine, Zuberi, Sameer M., Lal, Dennis, Møller, Rikke S., and Mantegazza, Massimo

Abstract

No abstract available.

Published
2022

29. Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

Author

Johannesen, Katrine M., primary, Iqbal, Sumaiya, additional, Guazzi, Milena, additional, Mohammadi, Nazanin A., additional, Pérez-Palma, Eduardo, additional, Schaefer, Elise, additional, De Saint Martin, Anne, additional, Abiwarde, Marie Therese, additional, McTague, Amy, additional, Pons, Roser, additional, Piton, Amelie, additional, Kurian, Manju A., additional, Ambegaonkar, Gautam, additional, Firth, Helen, additional, Sanchis-Juan, Alba, additional, Deprez, Marie, additional, Jansen, Katrien, additional, De Waele, Liesbeth, additional, Briltra, Eva H., additional, Verbeek, Nienke E., additional, van Kempen, Marjan, additional, Fazeli, Walid, additional, Striano, Pasquale, additional, Zara, Federico, additional, Visser, Gerhard, additional, Braakman, Hilde M.H., additional, Haeusler, Martin, additional, Elbracht, Miriam, additional, Vaher, Ulvi, additional, Smol, Thomas, additional, Lemke, Johannes R., additional, Platzer, Konrad, additional, Kennedy, Joanna, additional, Klein, Karl Martin, additional, Au, Ping Yee Billie, additional, Smyth, Kimberly, additional, Kaplan, Julie, additional, Thomas, Morgan, additional, Dewenter, Malin K., additional, Dinopoulos, Argirios, additional, Campbell, Arthur J., additional, Lal, Dennis, additional, Lederer, Damien, additional, Liao, Vivian W.Y., additional, Ahring, Philip K., additional, Møller, Rikke S., additional, and Gardella, Elena, additional

Published
2022
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33. Correction to:De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2021), 23, 4, (653-660), 10.1038/s41436-020-01020-w)

Author

Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Møller, Rikke S., Lemke, Johannes W, and Platzer, Konrad

Abstract

Unfortunately, in the first sentence in the abstract, a spelling mistake was introduced during the production process after our proofreading. The wording was changed from “aims” to “aimsed.” Heather M. McLaughlin was not listed among the authors. The original article has been corrected.

Published
2021

36. Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

Author

Johannesen, Katrine M, primary, Iqbal, Sumaiya, additional, Guazzi, Milena, additional, Mohammadi, Nazanin A, additional, Pérez-Palma, Eduardo, additional, Schaefer, Elise, additional, De Saint Martin, Anne, additional, Abiwarde, Marie Therese, additional, McTague, Amy, additional, Pons, Roser, additional, Piton, Amelie, additional, Kurian, Manju A, additional, Ambegaonkar, Gautam, additional, Firth, Helen, additional, Sanchis-Juan, Alba, additional, Deprez, Marie, additional, Jansen, Katrien, additional, De Waele, Liesbeth, additional, Briltra, Eva H, additional, Verbeek, Nienke E, additional, van Kempen, Marjan, additional, Fazeli, Walid, additional, Striano, Pasquale, additional, Zara, Federico, additional, Visser, Gerhard, additional, Braakman, Hilde M H, additional, Haeusler, Martin, additional, Elbracht, Miriam, additional, Sternman, David, additional, Vaher, Ulvi, additional, Smol, Thomas, additional, Lemke, Johannes R, additional, Platzer, Konrad, additional, Kennedy, Joanna, additional, Klein, Karl Martin, additional, Billie Au, Ping Yee, additional, Smyth, Kimberly, additional, Kaplan, Julie, additional, Thomas, Morgan, additional, Dewenter, Malin K, additional, Dinopoulos, Argirios, additional, Campbell, Arthur J, additional, Lal, Dennis, additional, Lederer, Damien, additional, Liao, Vivian W Y, additional, Ahring, Philip K, additional, Møller, Rikke S., additional, and Gardella, Elena, additional

Published
2021
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37. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Author

Klöckner, Chiara, primary, Sticht, Heinrich, additional, Zacher, Pia, additional, Popp, Bernt, additional, Babcock, Holly E., additional, Bakker, Dewi P., additional, Barwick, Katy, additional, Bonfert, Michaela V., additional, Bönnemann, Carsten G., additional, Brilstra, Eva H., additional, Chung, Wendy K., additional, Clarke, Angus J., additional, Devine, Patrick, additional, Donkervoort, Sandra, additional, Fraser, Jamie L., additional, Friedman, Jennifer, additional, Gates, Alyssa, additional, Ghoumid, Jamal, additional, Hobson, Emma, additional, Horvath, Gabriella, additional, Keller-Ramey, Jennifer, additional, Keren, Boris, additional, Kurian, Manju A., additional, Lee, Virgina, additional, Leppig, Kathleen A., additional, Lundgren, Johan, additional, McDonald, Marie T., additional, McLaughlin, Heather M., additional, McTague, Amy, additional, Mefford, Heather C., additional, Mignot, Cyril, additional, Mikati, Mohamad A., additional, Nava, Caroline, additional, Raymond, F. Lucy, additional, Sampson, Julian R., additional, Sanchis-Juan, Alba, additional, Shashi, Vandana, additional, Shieh, Joseph T.C., additional, Shinawi, Marwan, additional, Slavotinek, Anne, additional, Stödberg, Tommy, additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Taylor, Ashley C., additional, Toler, Tomi L., additional, van den Boogaard, Marie-José, additional, van der Crabben, Saskia N., additional, van Gassen, Koen L.I., additional, van Jaarsveld, Richard H., additional, Van Ziffle, Jessica, additional, Wadley, Alexandrea F., additional, Wagner, Matias, additional, Wigby, Kristen, additional, Wortmann, Saskia B., additional, Zarate, Yuri A., additional, Møller, Rikke S., additional, Lemke, Johannes R., additional, and Platzer, Konrad, additional

Published
2021
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38. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Author

Klöckner, Chiara, primary, Sticht, Heinrich, additional, Zacher, Pia, additional, Popp, Bernt, additional, Babcock, Holly E., additional, Bakker, Dewi P., additional, Barwick, Katy, additional, Bonfert, Michaela V., additional, Bönnemann, Carsten G., additional, Brilstra, Eva H., additional, Chung, Wendy K., additional, Clarke, Angus J., additional, Devine, Patrick, additional, Donkervoort, Sandra, additional, Fraser, Jamie L., additional, Friedman, Jennifer, additional, Gates, Alyssa, additional, Ghoumid, Jamal, additional, Hobson, Emma, additional, Horvath, Gabriella, additional, Keller-Ramey, Jennifer, additional, Keren, Boris, additional, Kurian, Manju A., additional, Lee, Virgina, additional, Leppig, Kathleen A., additional, Lundgren, Johan, additional, McDonald, Marie T., additional, McLaughlin, Heather M., additional, McTague, Amy, additional, Mefford, Heather C., additional, Mignot, Cyril, additional, Mikati, Mohamad A., additional, Nava, Caroline, additional, Raymond, F. Lucy, additional, Sampson, Julian R., additional, Sanchis-Juan, Alba, additional, Shashi, Vandana, additional, Shieh, Joseph T.C., additional, Shinawi, Marwan, additional, Slavotinek, Anne, additional, Stödberg, Tommy, additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Taylor, Ashley C., additional, Toler, Tomi L., additional, van den Boogaard, Marie-José, additional, van der Crabben, Saskia N., additional, van Gassen, Koen L.I., additional, van Jaarsveld, Richard H., additional, Van Ziffle, Jessica, additional, Wadley, Alexandrea F., additional, Wagner, Matias, additional, Wigby, Kristen, additional, Wortmann, Saskia B., additional, Zarate, Yuri A., additional, Møller, Rikke S., additional, Lemke, Johannes R., additional, and Platzer, Konrad, additional

Published
2021
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39. 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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41. The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy

Author

Datta, Alexandre N., primary, Bahi‐Buisson, Nadia, additional, Bienvenu, Thierry, additional, Buerki, Sarah E., additional, Gardiner, Fiona, additional, Cross, J. Helen, additional, Heron, Bénédicte, additional, Kaminska, Anna, additional, Korff, Christian M., additional, Lepine, Anne, additional, Lesca, Gaetan, additional, McTague, Amy, additional, Mefford, Heather C., additional, Mignot, Cyrill, additional, Milh, Matthieu, additional, Piton, Amélie, additional, Pressler, Ronit M., additional, Ruf, Susanne, additional, Sadleir, Lynette G., additional, de Saint Martin, Anne, additional, Van Gassen, Koen, additional, Verbeek, Nienke E., additional, Ville, Dorothée, additional, Villeneuve, Nathalie, additional, Zacher, Pia, additional, Scheffer, Ingrid E., additional, and Lemke, Johannes R., additional

Published
2021
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44. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

Author

McTague, Amy, Appleton, Richard, Avula, Shivaram, Cross, J. Helen, King, Mary D., Jacques, Thomas S., Bhate, Sanjay, Cronin, Anthony, Curran, Andrew, Desurkar, Archana, Farrell, Michael A., Hughes, Elaine, Jefferson, Rosalind, Lascelles, Karine, Livingston, John, Meyer, Esther, McLellan, Ailsa, Poduri, Annapurna, Scheffer, Ingrid E., Spinty, Stefan, Kurian, Manju A., and Kneen, Rachel

Published
2013
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45. Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies

Author

Absalom, Nathan L, primary, Liao, Vivian W Y, additional, Kothur, Kavitha, additional, Indurthi, Dinesh C, additional, Bennetts, Bruce, additional, Troedson, Christopher, additional, Mohammad, Shekeeb S, additional, Gupta, Sachin, additional, McGregor, Iain S, additional, Bowen, Michael T, additional, Lederer, Damien, additional, Mary, Sandrine, additional, De Waele, Liesbeth, additional, Jansen, Katrien, additional, Gill, Deepak, additional, Kurian, Manju A, additional, McTague, Amy, additional, Møller, Rikke S, additional, Ahring, Philip K, additional, Dale, Russell C, additional, and Chebib, Mary, additional

Published
2020
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48. 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

49. Structural mapping of GABRB3variants reveals genotype–phenotype correlations

Author

Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., and Gardella, Elena

Abstract

Pathogenic variants in GABRB3have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability (ID). In this study, we analyzed a large cohort of individuals with GABRB3variants to deepen the phenotypic understanding and investigate genotype–phenotype correlations.

Published
2022
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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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