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1. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

Author

Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Pérez‐Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Network, Undiagnosed Diseases, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, and Poduri, Annapurna

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Genetics, Epilepsy, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Case-Control Studies, Child, Child, Preschool, Female, GTP-Binding Protein alpha Subunits, Gi-Go, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Humans, Male, Neurodevelopmental Disorders, Young Adult, developmental and epileptic encephalopathy, GNAO1, mosaicism, movement disorders, Undiagnosed Diseases Network, GNAO1, Neurology & Neurosurgery, Clinical sciences
Abstract

OBJECTIVE:To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. METHODS:We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model. RESULTS:The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patients had hypotonia and developmental delay ranging from mild to severe. Nine had epilepsy, and nine had movement disorders, including dystonia, ataxia, chorea, and dyskinesia. The 13 GNAO1 variants in our patients are predicted to result in amino acid substitutions or deletions in the GNAO1 guanosine triphosphate (GTP)-binding region, analogous to those in previous publications. Patients with variants affecting amino acids 207-221 had only movement disorder and hypotonia. Patients with variants affecting the C-terminal region had the mildest phenotypes. SIGNIFICANCE:GNAO1 encephalopathy most frequently presents with seizures beginning in the first 3 months of life. Concurrent movement disorders are also a prominent feature in the spectrum of GNAO1 encephalopathy. All variants affected the GTP-binding domain of GNAO1, highlighting the importance of this region for G-protein signaling and neurodevelopment.

Published
2019

3. Hypercalcaemia and the ketogenic diet.

Author

Hobbs, Annabelle, Signal, Dana, Jensen, Diane, Ludwig, Karissa, Barwick, Katie, Calvert, Sophie, Callaghan, Leisha, and Munns, Craig

Subjects
COMMON variable immunodeficiency, ACUTE phase reaction, KETOGENIC diet, TRANCE protein, OSTEOCLAST inhibition
Abstract

The article discusses the case of a 16-year-old male with hypercalcaemia while on a ketogenic diet due to intractable seizures. The hypercalcaemia was managed with denosumab and zoledronic acid infusions, with eventual cessation of the ketogenic diet leading to normalization of calcium levels. The case highlights the challenges of managing hypercalcaemia in the context of renal impairment and the importance of monitoring serum calcium levels while on a ketogenic diet. The article emphasizes the need for clinicians to be aware of this rare complication when managing patients on a ketogenic diet. [Extracted from the article]

Published
2024
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4. 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

6. Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

Author

Abdel Aziz, Maysara, Acharya, Triloknath, Adcock, Carolyn, Jones, Robert, Howells, Rachel, Marsh, Ben, Adejare, Kemi, Adiga, Rashmi, Wheater, Mary, Ahmed, Mansoor, Sawal, Mohammad, Goel, Chhavi, Ahmed, MAS, Alber, Michael, Wolff, Markus, Ruf, Susanne, Al-Kharusi, Asya, Al-Moasseb, Hassan, Arora, Ruchi, Beach, Richard, Atkinson, Patricia, Ayonrinde, Kunle, Bala, Pronab, Bamford, Nicola, Barakat, Nagi, Basheer, Nigel, Baxter, Peter, Mordekar, Santosh, Rittey, Chris, Borggraefe, Ingo, Borusiak, Peter, Cagnoli, Sabine, Brown, Richard, Calvert, Sophie, Cameron, Duncan, Chaniyil, Ramesh, Chinthapalli, Ravi, Chow, Gabriel, Whitehouse, William, Clarke, Vinodhini, Cooper, Chris, Datta, Alexane, D'Costa, Selwyn, de Goede, Christian, Basu, Helen, Deekollu, David, Della Marina, Adela, Dison, Penelope, Dunkley, Colin, Eaton, Megan, Ellison, Julie, Pugh, Robert, Fallon, Penny, Faza, Hani, Choonara, Imti, Morton, Richard, Ratnayaka, Mal, Ferrie, Colin, Freeman, Amanda, Warriner, Stephen, Garcia, Maria, Ghazavi, Malihe, Gibbon, Frances, Gibbs, John, Ginbey, Des, Guarino, Iolanda, Gupta, Rajesh, Hanlon, Mary, Harris, Siân, Munyard, Paul, Hemingway, Cheryl, Eltze, Christin, Kaliakatsos, Marios, Murugan, Velayutham, Robinson, Robert, Tan, Jeen, Hindley, Daniel, Hughes, Adrian, Hussain, Akmal, Boden, Greg, Hussain, Munir, Hussain, Nahin, Dabydeen, Lyvia, Irwin, Kate, Jacobs, Julia, Jauhari, Praveen, Minchom, Philip, Jones, Simon, Karenfort, Michael, Keimer, Reinhard, Kennedy, Colin, Kirkham, Fenella, Whitney, Andrea, Kirkpatrick, Martin, Jollands, Alice, Kneen, Rachel, Iyer, Anand, McTague, Amy, Spinty, Stefan, Kumar, Ramesh, Kurlemann, Gerhard, Lee, Matthew, Jurges, Eman, Levy, Robert, Lewis, Helen, Lewis, Hilary, Lloyd Evans, Andrew, Loh, Ne-Ron, Osborne, John, O'Callaghan, Finbar, Maddicks, Hilary, Luecke, Thomas, Lux, Andrew, Majumdar, Anirban, Vijayakumar, Kayal, MacKay, Mark, Freeman, Jeremy, Hayman, Michael, Kornberg, Andrew, Leventer, Rick, Ryan, Monique, Ware, Tyson, Mancais, Penny, Marinaki, Katina, Massarano, Albert, Mathew, Satheesh, McLellan, Ailsa, Melville, Colin, Mewasingh, Leena, Muhle, Hiltrud, Nagmeldin, Eisawi, Natarajan, Jeyashree, Nelapatla, Suresh, Gondwe, Jailosi, Newton, Richard, Hughes, Imelda, Martland, Tim, McCullagh, Gary, Vassallo, Grace, Nirmal, Stephen, Nolan, Melinda, Davis, Suzanne, Patel, Rakesh, Sharpe, Cynthia, Olabi, Anas, O'Neill, Kevin, Gould, Jim, Panzer, Axel, Theophil, Manuela, Parepalli, Srinivas, Hinde, Frank, Smith, Martin, Parker, Alasdair, Chitre, Manali, Philip, Sunny, Gupta, Rajat, Wassmer, Evangeline, Pike, Mike, McShane, Tony, Prakash, Nandhini, Padmakumar, Beena, Pridmore, Clair, Prietsch, Viola, Krieg, Peter, Quinlivan, Ros, Quinn, Michael, Collinson, Andrew, Rajalingam, Usha, Rakshi, Karl, Rao, Tekki, Ravi, Asha, Rifkin, Rob, Roper, Helen, Rowlandson, Piers, Sadleir, Lynette, Sahi, Sanjay, Saraswatula, Arun, O'Sullivan, Siobhan, Saravanan, Kethar, Scammell, Alastair, Rao, Sudhakar, Schmitt, Bernhard, Schubert-Bast, Susanne, Scott, David J, Scott, Fraser, Pye, Matthew, Shah, Ayaz, Stephen, Elma, Shah, Shambhu, Butterfill, Andrew, Shute, Pauline, Singh, Rajeeva, Allogoa, Brigid, Singh, Ravinder, Sinha, Gyanranjan, Sivakumar, Puthuval, Smith, Robert, Sriskandan, Sivaranjini, Steinert, Martin, Strassburg, Michael, Strozzi, Susi, Subramanian, Geeta, Tandy, Andrew, O'Callaghan, Finbar J K, Edwards, Stuart W, Alber, Fabienne Dietrich, Cortina Borja, Mario, Hancock, Eleanor, Johnson, Anthony L, Kennedy, Colin R, Likeman, Marcus, Lux, Andrew L, Mackay, Mark T, Mallick, Andrew A, Newton, Richard W, Pressler, Ronit, Rating, Dietz, Verity, Christopher M, and Osborne, John P

Published
2018
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7. Aicardi Syndrome Is a Genetically Heterogeneous Disorder

Author

Ha, Thuong T., primary, Burgess, Rosemary, additional, Newman, Morgan, additional, Moey, Ching, additional, Mandelstam, Simone A., additional, Gardner, Alison E., additional, Ivancevic, Atma M., additional, Pham, Duyen, additional, Kumar, Raman, additional, Smith, Nicholas, additional, Patel, Chirag, additional, Malone, Stephen, additional, Ryan, Monique M., additional, Calvert, Sophie, additional, van Eyk, Clare L., additional, Lardelli, Michael, additional, Berkovic, Samuel F., additional, Leventer, Richard J., additional, Richards, Linda J., additional, Scheffer, Ingrid E., additional, Gecz, Jozef, additional, and Corbett, Mark A., additional

Published
2023
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8. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Author

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.

Published
2016
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9. The King's Outcome Scale for Childhood Head Injury and Injury Severity and Outcome Measures in Children with Traumatic Brain Injury

Author

Calvert, Sophie, Miller, Helen E., Curran, Andrew, Hameed, Biju, McCarter, Renee, Edwards, Richard J., Hunt, Linda, and Sharples, Peta Mary

Abstract

The aim of this study was to relate discharge King's Outcome Scale for Childhood Head Injury (KOSCHI) category to injury severity and detailed outcome measures obtained in the first year post-traumatic brain injury (TBI). We used a prospective cohort study. Eighty-one children with TBI were studied: 29 had severe, 15 moderate, and 37 mild TBI. The male:female ratio was 1.8:1. The mean age was 11 years 10 months (SD 3.6, range 5-16y). Discharge KOSCHI categories were good (n=34), moderate (n=39), severe (n=6), and unclassifiable (n=2). KOSCHI category correlated strongly with admission Glasgow Coma Score, length of hospital stay, and post-traumatic amnesia. It also correlated significantly with Verbal IQ and Performance IQ (Wechsler); measures of attention; health status (Health Utilities Index [HUI]); health-related quality of life (Pediatric Quality of Life Inventory [PedsQL]); depressive symptoms (Birleson Depression Scale) assessed within 3 months postTBI; and with Verbal IQ, selective attention (map mission), and HUI and PedsQL domains assessed at least 6 months post-TBI discharge. KOSCHI did not correlate with behaviour or executive function. We conclude that the KOSCHI scored at hospital discharge correlates with severity of injury and some cognitive, health status, and HRQL outcomes early after TBI. It is not helpful at predicting later difficulties, or behavioural and emotional problems.

Published
2008
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10. CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection‐triggered encephalopathy syndromes.

Author

Dale, Russell C., Thomas, Terrence, Patel, Shrujna, Han, Velda X., Kothur, Kavitha, Troedson, Christopher, Gupta, Sachin, Gill, Deepak, Malone, Stephen, Waak, Michaela, Calvert, Sophie, Subramanian, Gopinath, Andrews, P. Ian, Kandula, Tejaswi, Menezes, Manoj P., Ardern‐Holmes, Simone, Mohammad, Shekeeb, Bandodkar, Sushil, and Yan, Jingya

Subjects
EPILEPSY, QUINOLINIC acid, LIQUID chromatography-mass spectrometry, NEOPTERIN, STATUS epilepticus, BRAIN diseases
Abstract

Objective: Infection‐triggered encephalopathy syndromes (ITES) are potentially devastating neuroinflammatory conditions. Although some ITES syndromes have recognisable MRI neuroimaging phenotypes, there are otherwise few biomarkers of disease. Early detection to enable immune modulatory treatments could improve outcomes. Methods: We measured CSF neopterin, quinolinic acid, kynurenine and kynurenine/tryptophan ratio using a liquid chromatography coupled to tandem mass spectrometry (LC–MS/MS) system. The CSF of 18 children with ITES were compared with acute encephalitis (n = 20), and three control groups, namely epilepsy (n = 20), status epilepticus (n = 18) and neurogenetic controls (n = 20). Results: The main ITES phenotypes in 18 patients were acute encephalopathy with biphasic seizures and late restricted diffusion (AESD, n = 4), febrile infection‐related epilepsy syndrome (FIRES n = 4) and other ITES phenotypes. Influenza A was the most common infectious trigger (n = 5), and 50% of patients had a preceding notable neurodevelopmental or family history. CSF neopterin, quinolinic acid and kynurenine were elevated in ITES group compared to the three control groups (all p < 0.0002). The ROC (area under curve) for CSF neopterin (99.3%, CI 98.1–100) was significantly better than CSF pleocytosis (87.3% CI 76.4–98.2) (p = 0.028). Elevated CSF neopterin could discriminate ITES from other causes of seizures, status epilepticus and febrile status epilepticus (all p < 0.0002). The elevated CSF metabolites normalised during longitudinal testing in two patients with FIRES. Interpretation: CSF neopterin and quinolinic acid are neuroinflammatory and excitotoxic metabolites. This CSF metabolomic inflammatory panel can discriminate ITES from other causes of new onset seizures or status epilepticus, and rapid results (4 h) may facilitate early immune modulatory therapy. [ABSTRACT FROM AUTHOR]

Published
2023
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13. PIGN encephalopathy: Characterizing the epileptology

Author

Bayat, Allan, primary, de Valles‐Ibáñez, Guillem, additional, Pendziwiat, Manuela, additional, Knaus, Alexej, additional, Alt, Kerstin, additional, Biamino, Elisa, additional, Bley, Annette, additional, Calvert, Sophie, additional, Carney, Patrick, additional, Caro‐Llopis, Alfonso, additional, Ceulemans, Berten, additional, Cousin, Janice, additional, Davis, Suzanne, additional, des Portes, Vincent, additional, Edery, Patrick, additional, England, Eleina, additional, Ferreira, Carlos, additional, Freeman, Jeremy, additional, Gener, Blanca, additional, Gorce, Magali, additional, Heron, Delphine, additional, Hildebrand, Michael S., additional, Jezela‐Stanek, Aleksandra, additional, Jouk, Pierre‐Simon, additional, Keren, Boris, additional, Kloth, Katja, additional, Kluger, Gerhard, additional, Kuhn, Marius, additional, Lemke, Johannes R., additional, Li, Hong, additional, Martinez, Francisco, additional, Maxton, Caroline, additional, Mefford, Heather C., additional, Merla, Giuseppe, additional, Mierzewska, Hanna, additional, Muir, Alison, additional, Monfort, Sandra, additional, Nicolai, Joost, additional, Norman, Jennifer, additional, O'Grady, Gina, additional, Oleksy, Barbara, additional, Orellana, Carmen, additional, Orec, Laura Elena, additional, Peinhardt, Charlotte, additional, Pronicka, Ewa, additional, Rosello, Monica, additional, Santos‐Simarro, Fernando, additional, Schwaibold, Eva Maria Christina, additional, Stegmann, Alexander P. A., additional, Stumpel, Constance T., additional, Szczepanik, Elzbieta, additional, Terczyńska, Iwona, additional, Thevenon, Julien, additional, Tzschach, Andreas, additional, Van Bogaert, Patrick, additional, Vittorini, Roberta, additional, Walsh, Sonja, additional, Weckhuysen, Sarah, additional, Weissman, Barbara, additional, Wolfe, Lynne, additional, Reymond, Alexandre, additional, De Nittis, Pasquelena, additional, Poduri, Annapurna, additional, Olson, Heather, additional, Striano, Pasquale, additional, Lesca, Gaetan, additional, Scheffer, Ingrid E., additional, Møller, Rikke S., additional, and Sadleir, Lynette G., additional

Published
2022
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14. Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Author

Grinton, Bronwyn E., Heron, Sarah E., Pelekanos, James T., Zuberi, Sameer M., Kivity, Sara, Afawi, Zaid, Williams, Tristiana C., Casalaz, Dan M., Yendle, Simone, Linder, Ilan, Lev, Dorit, Lerman-Sagie, Tally, Malone, Stephen, Bassan, Haim, Goldberg-Stern, Hadassa, Stanley, Thorsten, Hayman, Michael, Calvert, Sophie, Korczyn, Amos D., Shevell, Michael, Scheffer, Ingrid E., Mulley, John C., and Berkovic, Samuel F.

Published
2015
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16. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Author

Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, and Clayton, Peter T.

Published
2014
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17. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

Author

Schneider, Amy L., primary, Myers, Candace T., additional, Muir, Alison M., additional, Calvert, Sophie, additional, Basinger, Alice, additional, Perry, M. Scott, additional, Rodan, Lance, additional, Helbig, Katherine L., additional, Chambers, Chelsea, additional, Gorman, Kathleen M., additional, King, Mary D., additional, Donkervoort, Sandra, additional, Soldatos, Ariane, additional, Bönnemann, Carsten G., additional, Spataro, Nino, additional, Gabau, Elisabeth, additional, Arellano, Montserrat, additional, Cappuccio, Gerarda, additional, Brunetti‐Pierri, Nicola, additional, Rossignol, Elsa, additional, Hamdan, Fadi F., additional, Michaud, Jacques L., additional, Balak, Christopher, additional, Mefford, Heather C., additional, and Scheffer, Ingrid E., additional

Published
2020
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18. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Author

Crow, Yanick J, primary, Marshall, Heather, additional, Rice, Gillian I, additional, Seabra, Luis, additional, Jenkinson, Emma M, additional, Baranano, Kristin, additional, Battini, Roberta, additional, Berger, Andrea, additional, Blair, Edward, additional, Blauwblomme, Thomas, additional, Bolduc, Francois, additional, Boddaert, Natalie, additional, Buckard, Johannes, additional, Burnett, Heather, additional, Calvert, Sophie, additional, Caumes, Roseline, additional, Ng, Andy Cheuk‐Him, additional, Chiang, Diana, additional, Clifford, David B, additional, Cordelli, Duccio M, additional, Burca, Anna, additional, Demic, Natasha, additional, Desguerre, Isabelle, additional, De Waele, Liesbeth, additional, Di Fonzo, Alessio, additional, Dunham, S. Richard, additional, Dyack, Sarah, additional, Elmslie, Frances, additional, Ferrand, Mickaël, additional, Fisher, Gemma, additional, Karimiani, Ehsan Ghayoor, additional, Ghoumid, Jamal, additional, Gibbon, Frances, additional, Goel, Himanshu, additional, Hilmarsen, Hilde T, additional, Hughes, Imelda, additional, Jacob, Anu, additional, Jones, Elizabeth A, additional, Kumar, Ram, additional, Leventer, Richard J, additional, MacDonald, Shelley, additional, Maroofian, Reza, additional, Mehta, Sarju G, additional, Metz, Imke, additional, Monfrini, Edoardo, additional, Neumann, Daniela, additional, Noetzel, Michael, additional, O'Driscoll, Mary, additional, Õunap, Katrin, additional, Panzer, Axel, additional, Parikh, Sumit, additional, Prabhakar, Prab, additional, Ramond, Francis, additional, Sandford, Richard, additional, Saneto, Russell, additional, Soh, Calvin, additional, Stutterd, Chloe A, additional, Subramanian, Gopinath M, additional, Talbot, Kevin, additional, Thomas, Rhys H, additional, Toro, Camilo, additional, Touraine, Renaud, additional, Wakeling, Emma, additional, Wassmer, Evangeline, additional, Whitney, Andrea, additional, Livingston, John H, additional, O'Keefe, Raymond T, additional, and Badrock, Andrew P, additional

Published
2020
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19. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Author

Schneider, Amy L., Myers, Candace T., Muir, Alison M., Calvert, Sophie, Basinger, Alice, Perry, M. Scott, Rodan, Lance, Helbig, Katherine L., Chambers, Chelsea, Gorman, Kathleen M., King, Mary D., Donkervoort, Sandra, Soldatos, Ariane, Bönnemann, Carsten G., Spataro, Nino, Gabau, Elisabeth, Arellano, Montserrat, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, and Rossignol, Elsa

Subjects
INTELLECTUAL disabilities, CHILDREN with epilepsy, MOVEMENT disorders, LENNOX-Gastaut syndrome, INFANTILE spasms, 22Q11 deletion syndrome, AGE of onset, PEOPLE with epilepsy
Abstract

Chromosome 1q41‐q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41‐q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease. Patients with WDR26 encephalopathy overlap clinically with those with 1q41‐q42 deletion syndrome, whereas only one patient with FBXO28 encephalopathy has been described. Seizures are a prominent feature of 1q41‐q42 deletion syndrome; therefore, we hypothesized that pathogenic FBXO28 variants cause developmental and epileptic encephalopathies (DEEs). We describe nine new patients with FBXO28 pathogenic variants (four missense, including one recurrent, three nonsense, and one frameshift) and analyze all 10 known cases to delineate the phenotypic spectrum. All patients had epilepsy and 9 of 10 had DEE, including infantile spasms (3) and a progressive myoclonic epilepsy (1). Median age at seizure onset was 22.5 months (range 8 months to 5 years). Nine of 10 patients had intellectual disability, which was profound in six of nine and severe in three of nine. Movement disorders occurred in eight of 10 patients, six of 10 had hypotonia, four of 10 had acquired microcephaly, and five of 10 had dysmorphic features, albeit different to those typically seen in 1q41‐q42 deletion syndrome and WDR26 encephalopathy. We distinguish FBXO28 encephalopathy from both of these disorders with more severe intellectual impairment, drug‐resistant epilepsy, and hyperkinetic movement disorders. [ABSTRACT FROM AUTHOR]

Published
2021
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20. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Author

Crow, Yanick J, Marshall, Heather, Rice, Gillian I, Seabra, Luis, Jenkinson, Emma M, Baranano, Kristin, Battini, Roberta, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk‐Him, Chiang, Diana, Clifford, David B, and Cordelli, Duccio M

Abstract

Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the high allelic polymorphism across SNORD118 in controls, we set out to provide a description of the molecular pathology and clinical spectrum observed in a cohort of patients with LCC. We identified 64 affected individuals from 56 families. Age at presentation varied from 3 weeks to 67 years, with disease onset after age 40 years in eight patients. Ten patients had died. We recorded 44 distinct, likely pathogenic, variants in SNORD118. Fifty two of 56 probands were compound heterozygotes, with parental consanguinity reported in only three families. Forty nine of 56 probands were either heterozygous (46) or homozygous (three) for a mutation involving one of seven nucleotides that facilitate a novel intramolecular interaction between the 5′ end and 3′ extension of precursor‐U8. There was no obvious genotype–phenotype correlation to explain the marked variability in age at onset. Complementing recently published functional analyses in a zebrafish model, these data suggest that LCC most often occurs due to combinatorial severe and milder mutations, with the latter mostly affecting 3′ end processing of precursor‐U8. [ABSTRACT FROM AUTHOR]

Published
2021
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21. Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

Author

O'Callaghan, Finbar J K, primary, Edwards, Stuart W, additional, Alber, Fabienne Dietrich, additional, Cortina Borja, Mario, additional, Hancock, Eleanor, additional, Johnson, Anthony L, additional, Kennedy, Colin R, additional, Likeman, Marcus, additional, Lux, Andrew L, additional, Mackay, Mark T, additional, Mallick, Andrew A, additional, Newton, Richard W, additional, Nolan, Melinda, additional, Pressler, Ronit, additional, Rating, Dietz, additional, Schmitt, Bernhard, additional, Verity, Christopher M, additional, Osborne, John P, additional, Abdel Aziz, Maysara, additional, Acharya, Triloknath, additional, Adcock, Carolyn, additional, Jones, Robert, additional, Howells, Rachel, additional, Marsh, Ben, additional, Adejare, Kemi, additional, Adiga, Rashmi, additional, Wheater, Mary, additional, Ahmed, Mansoor, additional, Sawal, Mohammad, additional, Goel, Chhavi, additional, Ahmed, MAS, additional, Alber, Michael, additional, Wolff, Markus, additional, Ruf, Susanne, additional, Al-Kharusi, Asya, additional, Al-Moasseb, Hassan, additional, Arora, Ruchi, additional, Beach, Richard, additional, Atkinson, Patricia, additional, Ayonrinde, Kunle, additional, Bala, Pronab, additional, Bamford, Nicola, additional, Barakat, Nagi, additional, Basheer, Nigel, additional, Baxter, Peter, additional, Mordekar, Santosh, additional, Rittey, Chris, additional, Borggraefe, Ingo, additional, Borusiak, Peter, additional, Cagnoli, Sabine, additional, Brown, Richard, additional, Calvert, Sophie, additional, Cameron, Duncan, additional, Chaniyil, Ramesh, additional, Chinthapalli, Ravi, additional, Chow, Gabriel, additional, Whitehouse, William, additional, Clarke, Vinodhini, additional, Cooper, Chris, additional, Datta, Alexane, additional, D'Costa, Selwyn, additional, de Goede, Christian, additional, Basu, Helen, additional, Deekollu, David, additional, Della Marina, Adela, additional, Dison, Penelope, additional, Dunkley, Colin, additional, Eaton, Megan, additional, Ellison, Julie, additional, Pugh, Robert, additional, Fallon, Penny, additional, Faza, Hani, additional, Choonara, Imti, additional, Morton, Richard, additional, Ratnayaka, Mal, additional, Ferrie, Colin, additional, Freeman, Amanda, additional, Warriner, Stephen, additional, Garcia, Maria, additional, Ghazavi, Malihe, additional, Gibbon, Frances, additional, Gibbs, John, additional, Ginbey, Des, additional, Guarino, Iolanda, additional, Gupta, Rajesh, additional, Hanlon, Mary, additional, Harris, Siân, additional, Munyard, Paul, additional, Hemingway, Cheryl, additional, Eltze, Christin, additional, Kaliakatsos, Marios, additional, Murugan, Velayutham, additional, Robinson, Robert, additional, Tan, Jeen, additional, Hindley, Daniel, additional, Hughes, Adrian, additional, Hussain, Akmal, additional, Boden, Greg, additional, Hussain, Munir, additional, Hussain, Nahin, additional, Dabydeen, Lyvia, additional, Irwin, Kate, additional, Jacobs, Julia, additional, Jauhari, Praveen, additional, Minchom, Philip, additional, Jones, Simon, additional, Karenfort, Michael, additional, Keimer, Reinhard, additional, Kennedy, Colin, additional, Kirkham, Fenella, additional, Whitney, Andrea, additional, Kirkpatrick, Martin, additional, Jollands, Alice, additional, Kneen, Rachel, additional, Iyer, Anand, additional, McTague, Amy, additional, Spinty, Stefan, additional, Kumar, Ramesh, additional, Kurlemann, Gerhard, additional, Lee, Matthew, additional, Jurges, Eman, additional, Levy, Robert, additional, Lewis, Helen, additional, Lewis, Hilary, additional, Lloyd Evans, Andrew, additional, Loh, Ne-Ron, additional, Osborne, John, additional, O'Callaghan, Finbar, additional, Maddicks, Hilary, additional, Luecke, Thomas, additional, Lux, Andrew, additional, Majumdar, Anirban, additional, Vijayakumar, Kayal, additional, MacKay, Mark, additional, Freeman, Jeremy, additional, Hayman, Michael, additional, Kornberg, Andrew, additional, Leventer, Rick, additional, Ryan, Monique, additional, Ware, Tyson, additional, Mancais, Penny, additional, Marinaki, Katina, additional, Massarano, Albert, additional, Mathew, Satheesh, additional, McLellan, Ailsa, additional, Melville, Colin, additional, Mewasingh, Leena, additional, Muhle, Hiltrud, additional, Nagmeldin, Eisawi, additional, Natarajan, Jeyashree, additional, Nelapatla, Suresh, additional, Gondwe, Jailosi, additional, Newton, Richard, additional, Hughes, Imelda, additional, Martland, Tim, additional, McCullagh, Gary, additional, Vassallo, Grace, additional, Nirmal, Stephen, additional, Davis, Suzanne, additional, Patel, Rakesh, additional, Sharpe, Cynthia, additional, Olabi, Anas, additional, O'Neill, Kevin, additional, Gould, Jim, additional, Panzer, Axel, additional, Theophil, Manuela, additional, Parepalli, Srinivas, additional, Hinde, Frank, additional, Smith, Martin, additional, Parker, Alasdair, additional, Chitre, Manali, additional, Philip, Sunny, additional, Gupta, Rajat, additional, Wassmer, Evangeline, additional, Pike, Mike, additional, McShane, Tony, additional, Prakash, Nandhini, additional, Padmakumar, Beena, additional, Pridmore, Clair, additional, Prietsch, Viola, additional, Krieg, Peter, additional, Quinlivan, Ros, additional, Quinn, Michael, additional, Collinson, Andrew, additional, Rajalingam, Usha, additional, Rakshi, Karl, additional, Rao, Tekki, additional, Ravi, Asha, additional, Rifkin, Rob, additional, Roper, Helen, additional, Rowlandson, Piers, additional, Sadleir, Lynette, additional, Sahi, Sanjay, additional, Saraswatula, Arun, additional, O'Sullivan, Siobhan, additional, Saravanan, Kethar, additional, Scammell, Alastair, additional, Rao, Sudhakar, additional, Schubert-Bast, Susanne, additional, Scott, David J, additional, Scott, Fraser, additional, Pye, Matthew, additional, Shah, Ayaz, additional, Stephen, Elma, additional, Shah, Shambhu, additional, Butterfill, Andrew, additional, Shute, Pauline, additional, Singh, Rajeeva, additional, Allogoa, Brigid, additional, Singh, Ravinder, additional, Sinha, Gyanranjan, additional, Sivakumar, Puthuval, additional, Smith, Robert, additional, Sriskandan, Sivaranjini, additional, Steinert, Martin, additional, Strassburg, Michael, additional, Strozzi, Susi, additional, Subramanian, Geeta, additional, and Tandy, Andrew, additional

Published
2018
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23. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Author

Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, Clayton, Peter T., Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, and Clayton, Peter T.

Abstract

Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills etal. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen with PLP, as well as PLP-responsive infantile spasms

Published
2017

25. Reconstructing textile heritage

Author

Calvert, Sophie, POWER, Jess, Ryall, Helen, and Bills, Paul J.

Subjects
Visual Arts and Performing Arts, Communication, TT, TS
Abstract

This article recreates a deteriorating archive, bringing life, opportunity and growth to a collection that is in reality dying. It explores a collection owned by the National Trust at Claydon House in Buckinghamshire. Modern techniques of Infinate Focus Microscopy and Computerized Tomography scanning are used to render 3D digital images which are intended to capture the imagination of contemporary artists and designers resulting in an ever evolving archive for future generations. The research identifies that all textile materials have significance and even the smallest fragments may serve as an inspiration to the next generation of creative designers. Focusing on the preservation, restoration and visualization of small insignificant fragments of delicate cloth, the article captures and reinvents the materials, giving a new meaning for future generations.

Published
2014

26. SCN2A encephalopathy

Author

Howell, Katherine B., primary, McMahon, Jacinta M., additional, Carvill, Gemma L., additional, Tambunan, Dimira, additional, Mackay, Mark T., additional, Rodriguez-Casero, Victoria, additional, Webster, Richard, additional, Clark, Damian, additional, Freeman, Jeremy L., additional, Calvert, Sophie, additional, Olson, Heather E., additional, Mandelstam, Simone, additional, Poduri, Annapurna, additional, Mefford, Heather C., additional, Harvey, A. Simon, additional, and Scheffer, Ingrid E., additional

Published
2015
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27. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Author

Mills, Philippa B, Camuzeaux, Stephane S M, Footitt, Emma J, Mills, Kevin A, Gissen, Paul, Fisher, Laura, Das, Krishna B, Varadkar, Sophia M, Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I, Livingston, John H, Bala, Pronab, Morel, Chantal F, Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W Kling, Pitt, Matthew, Clayton, Peter T, Mills, Philippa B, Camuzeaux, Stephane S M, Footitt, Emma J, Mills, Kevin A, Gissen, Paul, Fisher, Laura, Das, Krishna B, Varadkar, Sophia M, Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I, Livingston, John H, Bala, Pronab, Morel, Chantal F, Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W Kling, Pitt, Matthew, and Clayton, Peter T

Abstract

The first described patients with pyridox(am)ine 5'-phosphate oxidase deficiency all had neonatal onset seizures that did not respond to treatment with pyridoxine but responded to treatment with pyridoxal 5'-phosphate. Our data suggest, however, that the clinical spectrum of pyridox(am)ine 5'-phosphate oxidase deficiency is much broader than has been reported in the literature. Sequencing of the PNPO gene was undertaken for a cohort of 82 individuals who had shown a reduction in frequency and severity of seizures in response to pyridoxine or pyridoxal 5'-phosphate. Novel sequence changes were studied using a new cell-free expression system and a mass spectrometry-based assay for pyridoxamine phosphate oxidase. Three groups of patients with PNPO mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5'-phosphate (n = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5'-phosphate (n = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (n = 8). Data suggest that certain genotypes (R225H/C and D33V) are more likely to result in seizures that to respond to treatment with pyridoxine. Other mutations seem to be associated with infertility, miscarriage and prematurity. However, the situation is clearly complex with the same combination of mutations being seen in patients who responded and did not respond to pyridoxine. It is possible that pyridoxine responsiveness in PNPO deficiency is affected by prematurity and age at the time of the therapeutic trial. Other additional factors that are likely to influence treatment response and outcome include riboflavin status and how well the foetus has been supplied with vitamin B6 by the mother. For some patients there was a worsening of symptoms on changing from pyridoxine to pyridoxal 5'-phosphate. Many of the mutations in PNPO affected residues involved in binding flavin mononucleotide or

Published
2014

29. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Author

Carvill, Gemma L, primary, Heavin, Sinéad B, additional, Yendle, Simone C, additional, McMahon, Jacinta M, additional, O'Roak, Brian J, additional, Cook, Joseph, additional, Khan, Adiba, additional, Dorschner, Michael O, additional, Weaver, Molly, additional, Calvert, Sophie, additional, Malone, Stephen, additional, Wallace, Geoffrey, additional, Stanley, Thorsten, additional, Bye, Ann M E, additional, Bleasel, Andrew, additional, Howell, Katherine B, additional, Kivity, Sara, additional, Mackay, Mark T, additional, Rodriguez-Casero, Victoria, additional, Webster, Richard, additional, Korczyn, Amos, additional, Afawi, Zaid, additional, Zelnick, Nathanel, additional, Lerman-Sagie, Tally, additional, Lev, Dorit, additional, Møller, Rikke S, additional, Gill, Deepak, additional, Andrade, Danielle M, additional, Freeman, Jeremy L, additional, Sadleir, Lynette G, additional, Shendure, Jay, additional, Berkovic, Samuel F, additional, Scheffer, Ingrid E, additional, and Mefford, Heather C, additional

Published
2013
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31. SCN2Aencephalopathy

Author

Howell, Katherine B., McMahon, Jacinta M., Carvill, Gemma L., Tambunan, Dimira, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Clark, Damian, Freeman, Jeremy L., Calvert, Sophie, Olson, Heather E., Mandelstam, Simone, Poduri, Annapurna, Mefford, Heather C., Harvey, A. Simon, and Scheffer, Ingrid E.

Published
2015
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32. Reviewers

Author

Ambler, Geoffrey, Barnes, Chris, Burke, John, Cairns, Anita, Calvert, Sophie, Catto-Smith, Anthony, Christodoulou, John, Choong, Robin, Conwell, Louise, Cotterill, Andrew, Dalla-Pozza, Luciano, Dossetor, David, Downie, Peter, Kewley, Geoff, Madden, Sloane, O'Loughlin, Edward, Procopis, Peter, Sampaio, Hugo, Selvadurai, Hiran, Timms, Brian, Wainwright, Claire, Whight, Chris, and Whitehead, Ben

Published
2018
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34. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Author

Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, Clayton, Peter T., Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, and Clayton, Peter T.

Abstract

Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills etal. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but worsen with PLP, as well as PLP-responsive infantile spasms

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