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1. Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1

Author

Pobric, Gorana, Taylor, Jason R., Ramalingam, Hemavathy M., Pye, Emily, Robinson, Louise, Vassallo, Grace, Jung, JeYoung, Bhandary, Misty, Szumanska-Ryt, Karolina, Theodosiou, Louise, Evans, D. Gareth, Eelloo, Judith, Burkitt-Wright, Emma, Hulleman, Johan, Green, Jonathan, and Garg, Shruti

Abstract

Neurofibromatosis 1 (NF1) is a single gene disorder associated with working Memory (WM) impairments. The aim of this study was to investigate P300 event-related potential (ERP) associated with WM in NF1. Sixteen adolescents with NF1 were compared with controls on measures of WM and EEG was recorded during a WM nback task. The NF1 group showed poorer performance on measures of WM as compared to the control group. No group differences were observed in P300 amplitude at Pz, but P300 latency was shorter in the NF1 group. Topographic analyses of P300 amplitude showed group differences indicating neural processing differences in the NF1 group relative to controls, which possibly contribute to the cognitive deficits seen in this population.

Published
2022
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6. Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood

Author

Carter leno, Virginia, Begum-Ali, Jannath, Goodwin, Amy, Mason, Luke, Pasco, Greg, Pickles, Andrew, Garg, Shruti, Green, Jonathan, Charman, Tony, Johnson, Mark H., Jones, Emily J. H., Vassallo, Grace, Burkitt-Wright, Emma, Eelloo, Judith, Gareth evans, D, West, Siobhan, Hupton, Eileen, Lewis, Lauren, Robinson, Louise, Dobbie, Angus, Drimer, Ruth, Bethell, Helen, Jones, Rachel, Musson, Susan, Prem, Catherine, Splitt, Miranda, Horridge, Karen, Baralle, Diana, Redman, Carolyn, Tomkins, Helen, Bhojwani, Ankita, Connelly, Shannon, Conti, Francesca, Evans, Beth, Jackson, Meg, Powell, Emily, Agyapong, Mary, Bazelmans, Tessel, Dafner, Leila, Ersoy, Mutluhan, Gliga, Teea, Haartsen, Rianne, Halkola, Hanna, Hendry, Alexandra, Holman, Rebecca, Kalwarowsky, Sarah, Kolesnik, Anna, Narvekar, Nisha, and Taylor, Chloë

Subjects
Autism, Infant, Psychiatry and Mental health, Developmental Neuroscience, NF1, E/I balance, Child, Preschool, ADHD, Humans, Executive functioning, Infants, Molecular Biology, Aged, Developmental Biology
Abstract

Background Autism is proposed to be characterised by an atypical balance of cortical excitation and inhibition (E/I). However, most studies have examined E/I alterations in older autistic individuals, meaning that findings could in part reflect homeostatic compensation. To assess the directionality of effects, it is necessary to examine alterations in E/I balance early in the lifespan before symptom emergence. Recent explanatory frameworks have argued that it is also necessary to consider how early risk features interact with later developing modifier factors to predict autism outcomes. Method We indexed E/I balance in early infancy by extracting the aperiodic exponent of the slope of the electroencephalogram (EEG) power spectrum (‘1/f’). To validate our index of E/I balance, we tested for differences in the aperiodic exponent in 10-month-old infants with (n = 22) and without (n = 27) neurofibromatosis type 1 (NF1), a condition thought to be characterised by alterations to cortical inhibition. We then tested for E/I alterations in a larger heterogeneous longitudinal cohort of infants with and without a family history of neurodevelopmental conditions (n = 150) who had been followed to early childhood. We tested the relevance of alterations in E/I balance and our proposed modifier, executive attention, by assessing whether associations between 10-month aperiodic slope and 36-month neurodevelopmental traits were moderated by 24-month executive attention. Analyses adjusted for age at EEG assessment, sex and number of EEG trials. Results Infants with NF1 were characterised by a higher aperiodic exponent, indicative of greater inhibition, supporting our infant measure of E/I. Longitudinal analyses showed a significant interaction between aperiodic slope and executive attention, such that higher aperiodic exponents predicted greater autistic traits in childhood, but only in infants who also had weaker executive functioning abilities. Limitations The current study relied on parent report of infant executive functioning-type abilities; future work is required to replicate effects with objective measures of cognition. Conclusions Results suggest alterations in E/I balance are on the developmental pathway to autism outcomes, and that higher executive functioning abilities may buffer the impact of early cortical atypicalities, consistent with proposals that stronger executive functioning abilities may modify the impact of a wide range of risk factors.

Published
2022

7. Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

Author

Sitaram, Spatikha, primary, Banka, Hetalika C., additional, Vassallo, Grace, additional, Pavaine, Julija, additional, Fairclough, Adele, additional, Wright, Ronnie, additional, Fairbanks, Lynette, additional, Bierau, Jörgen, additional, Bowden, Lydia, additional, Schwahn, Bernd, additional, Horman, Alistair, additional, and Banka, Siddharth, additional

Published
2022
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8. Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya

Author

Tho-Calvi, Sara C., Thompson, Dominic, Saunders, Dawn, Agrawal, Shakti, Basu, Anna, Chitre, Manali, Chow, Gabriel, Gibbon, Frances, Hart, Anthony, Tallur, Krishnaraya Kamath, Kirkham, Fenella, Kneen, Rachel, McCullagh, Helen, Mewasingh, Leena, Vassallo, Grace, Vijayakumar, Kayal, Wraige, Elizabeth, Yeo, Tong Hong, and Ganesan, Vijeya

Published
2018
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9. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Author

Rice, Gillian I, Forte, Gabriella M A, Szynkiewicz, Marcin, Chase, Diana S, Aeby, Alec, Abdel-Hamid, Mohamed S, Ackroyd, Sam, Allcock, Rebecca, Bailey, Kathryn M, Balottin, Umberto, Barnerias, Christine, Bernard, Genevieve, Bodemer, Christine, Botella, Maria P, Cereda, Cristina, Chandler, Kate E, Dabydeen, Lyvia, Dale, Russell C, De Laet, Corinne, De Goede, Christian G E L, del Toro, Mireia, Effat, Laila, Enamorado, Noemi Nunez, Fazzi, Elisa, Gener, Blanca, Haldre, Madli, Lin, Jean-Pierre S-M, Livingston, John H, Lourenco, Charles Marques, Marques, Wilson, Jr, Oades, Patrick, Peterson, Pärt, Rasmussen, Magnhild, Roubertie, Agathe, Schmidt, Johanna Loewenstein, Shalev, Stavit A, Simon, Rogelio, Spiegel, Ronen, Swoboda, Kathryn J, Temtamy, Samia A, Vassallo, Grace, Vilain, Catheline N, Vogt, Julie, Wermenbol, Vanessa, Whitehouse, William P, Soler, Doriette, Olivieri, Ivana, Orcesi, Simona, Aglan, Mona S, Zaki, Maha S, Abdel-Salam, Ghada M H, Vanderver, Adeline, Kisand, Kai, Rozenberg, Flore, Lebon, Pierre, and Crow, Yanick J

Published
2013
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11. Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019

Author

Collins‐Sawaragi, Yoshua Colyn, primary, Ferner, Rosalie, additional, Vassallo, Grace, additional, De Agrò, Germana, additional, Eccles, Simon, additional, Cadwgan, Jill, additional, Hargrave, Darren, additional, Hupton, Eileen, additional, Eelloo, Judith, additional, Lunt, Lauren, additional, Tang, Vivian, additional, Burkitt Wright, Emma, additional, and Lascelles, Karine, additional

Published
2022
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12. Bladder dysfunction and hypertension in children with Guillain-Barre syndrome

Author

Watson, Louise, Aziz, Majid, Vassallo, Grace, Plant, Nicholas D., and Webb, Nicholas J.A.

Subjects
Guillain-Barre syndrome -- Risk factors -- Complications and side effects -- Patient outcomes -- Care and treatment -- Research, Encephalopathy -- Research -- Risk factors, Hypertension -- Research -- Risk factors, Health
Abstract

Background Guillain-Barre syndrome (GBS) causes acute motor, sensory and autonomic dysfunction. There is a relative paucity of published data regarding the autonomic features of GBS. The aims of this study were to describe the incidence, management and outcome of bladder dysfunction and hypertension in GBS and to ascertain whether these features relate to muscle weakness severity. Case-Diagnosis/Treatment Twenty-seven patients with a median (interquartile range) age of 5.7 (3.5-8.4) years were included, of whom 18 (67%) were male and 14 (52%) had autonomic dysfunction. One patient presented with and three subsequently developed urinary retention necessitating catheterisation for a median of 7.5 (7-14.5) days. Univariate analysis demonstrated that urinary retention was associated with weakness in all four limbs [retention: MRC muscle grade 2 (2-2.75); no retention: MRC grade 4 (3-1); p=0.02], possibly reflecting more severe disease. Patients with hypertension (12 patients, 44%) had a longer hospital stay [median 32.5 (15.5-53.5) days; rho = 0.65; p=0.02], and those with worse muscle weakness required more anti-hypertensive medications (upper limb rho = -0.71, p=0.03; lower limb rho = -0.72, p=0.03]. The majority of blood pressure treatments involved calcium channel and beta blockers. Conclusion In children with GBS, bladder dysfunction and hypertension are common. The presence of severe muscle weakness may predict those at greatest risk of these complications. Keywords Guillain-Barre syndrome * Hypertension * Child * Autonomic dysfunction, Introduction Guillain-Barre syndrome (GBS) is an acute inflammatory poly-neuropathy causing motor, sensory and autonomic dysfunction. The clinical presentation is a symmetrical ascending paralysis that peaks in less than 4 weeks, [...]

Published
2014
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14. Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression.

Author

Evans, D Gareth, Halliday, Dorothy, Obholzer, Rupert, Afridi, Shazia, Forde, Claire, Rutherford, Scott A, Hammerbeck-Ward, Charlotte, Lloyd, Simon K, Freeman, Simon M, Pathmanaban, Omar N, Thomas, Owen M, Laitt, Roger D, Stivaros, Stavros, Kilday, John-Paul, Vassallo, Grace, McBain, Catherine, Lavin, Timothy, Paterson, Chay, Whitfield, Gillian, and McCabe, Martin G

Published
2023
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15. Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.

Author

Sitaram, Spatikha, Banka, Hetalika C., Vassallo, Grace, Pavaine, Julija, Fairclough, Adele, Wright, Ronnie, Fairbanks, Lynette, Bierau, Jörgen, Bowden, Lydia, Schwahn, Bernd, Horman, Alistair, and Banka, Siddharth

Abstract

Adenylosuccinase deficiency is a rare inborn error of metabolism. We present a newborn who died at 52 days of age with clinical features suggestive of severe epileptic encephalopathy and leukodystrophy of unknown cause. Post‐mortem examination showed an unusual vacuolar appearance of the brain. A molecular autopsy performed via singleton clinical exome analysis revealed a known pathogenic and a variant of uncertain significance in ADSL that encodes adenylosuccinase. Tests on previously stored plasma samples showed elevated succinyladenosine and succinylaminoimidazole carboxamide riboside levels. Adenylosuccinase activity in stored fibroblasts was only ~5% of control confirming the diagnosis of adenylosuccinase deficiency in the child. The parents opted for a chorionic villus biopsy in a subsequent pregnancy and had a child unaffected by adenylosuccinase deficiency. This report adds vacuolating leukodystrophy as a novel feature of adenylosuccinase deficiency and shows the power of biochemical investigations directed by genomic studies to achieve accurate diagnosis. Importantly, this case demonstrates the importance of anticipatory banking of biological samples for reverse biochemical phenotyping in individuals with undiagnosed disorders who may not survive. [ABSTRACT FROM AUTHOR]

Published
2023
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18. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

Author

Hexter, Adam, Jones, Adrian, Joe, Harry, Heap, Laura, Smith, Miriam J, Wallace, Andrew J, Halliday, Dorothy, Parry, Allyson, Taylor, Amy, Raymond, Lucy, Shaw, Adam, Afridi, Shazia, Obholzer, Rupert, Axon, Patrick, King, Andrew T, Friedman, Jan M, Evans, D Gareth R, Burnet, Neil, Donnelly, Neil, Durie-Gair, Juliette, English, Martin, Folland, Nicola, Foweraker, Karen, Harris, Fiona, Harris, Frances, Heney, David, Jeffries, Sarah, Jena, Raj, Knight, Richard, Lamb, Tamara, Macfarlane, Robert, Mannion, Richard, Nicholson, James, Price, Richard, Rands, Ella, Sanghera, Paul, Scoffings, Daniel, Tysome, James, Ferner, Rosalie E, Hammond, Chris, Lascelles, Karine, Nunn, Terry, Saeed, Shakeel, Swampillai, Angela, Thomson, Suki, Walsh, Daniel, Williams, Victoria, Wood, Sue, Anup, Raji, Duff, Chris, Evans, D Gareth, Freeman, Simon R, Howie, Emma, Huson, Susan M, Jarvis, Nicola, Kamaly-Asi, Ian, King, Andrew, Kellett, Mark, Kilday, John-Paul, Lloyd, Simon K, Malluci, Connor, Mawman, Deborah, McBain, Catherine, Mills, Sam, OʼDriscoll, Martin, Patel, Sonia, Perry, Mary, Rutherford, Scott A, Scott-Kitching, Vilka, Stivaros, Stavros M, Thomas, Owen, Vassallo, Grace, Ward, Charlotte L, Blesing, Claire, Cogswell, Lucy, Dalton, Louise, Dodridge, Caroline, Elston, John, Giele, Henk, Hanemann, C Oliver, Howard, Wendy, Johnson, David, Kerr, Richard, Laws, Avianna, Lee, James, Mace, Elle, May, Anne, Milford, Chris, Pretorius, Peter, Ramsden, James, Redman, Caroline, Warner, Nicola, and Wilson, Shaun

Published
2015
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19. Bilateral vestibular schwannomas in older patients: NF2 or chance?

Author

Evans, D G, Freeman, S, Gokhale, C, Wallace, A, Lloyd, S K, Axon, P, Ward, C L, Rutherford, S, King, A, Huson, S M, Ramsden, R T, Thomas, Owen, Potter, Gillian, Laitt, Roger, Stivarou, Stavros, Kellett, Mark, Vassallo, Grace, Ealing, John, Kamaly, Ian, Mallucci, Conor, Lloyd, Simon, Mawman, Deborah, OʼDriscoll, Martin, Kilday, John-Paul, McCabe, Martin, McBain, Catherine, Anup, Raji, Perry, Mary, Jarvis, Nicola, Braithwaite, Patricia, Duff, Chris, Mowatt, David, Gajdosova, Eva, Sadiq, Ahmed, Fitzgerald, Lisa, Scott-Kitching, Vilka, Howie, Emma, and Patel, Sonia

Published
2015
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20. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Author

Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Corcoles, Concepcion Sierra, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., DArrigo, Stefano, De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Bülent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Piana, Roberta La, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenço, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E.V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Régal, Luc, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., te Water Naude, Johann, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona, and Rice, Gillian I.

Published
2015
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21. Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I

Author

Begum-Ali, Jannath, Kolesnik-Taylor, Anna, Quiroz, Isabel, Mason, Luke, Garg, Shruti, Green, Jonathan, Johnson, Mark H., Jones, Emily J. H., Holman, Rebecca, Kalwarowsky, Sarah, Pirazzoli, Laura, Taylor, Chloë, Vassallo, Grace, Burkitt-Wright, Emma, Eelloo, Judith, Evans, D. Gareth, West, Siobhan, Hupton, Eileen, Lewis, Lauren, Robinson, Louise, Dobbie, Angus, Drimer, Ruth, Sharif, Saghira Malik, Bethell, Helen, Jones, Rachel, Musson, Susan, Prem, Catherine, Splitt, Miranda, Horridge, Karen, Baralle, Diana, Redman, Carolyn, Tomkins, Helen, Jones, Emily J. H. [0000-0001-5747-9540], and Apollo - University of Cambridge Repository

Subjects
Research, Change detection, Habituation, EEG, Auditory processing, Autism spectrum disorder, behavioral disciplines and activities, Neurofibromatosis type 1
Abstract

Background: Sensory modulation difficulties are common in children with conditions such as Autism Spectrum Disorder (ASD) and could contribute to other social and non-social symptoms. Positing a causal role for sensory processing differences requires observing atypical sensory reactivity prior to the emergence of other symptoms, which can be achieved through prospective studies. Methods: In this longitudinal study, we examined auditory repetition suppression and change detection at 5 and 10 months in infants with and without Neurofibromatosis Type 1 (NF1), a condition associated with higher likelihood of developing ASD. Results: In typically developing infants, suppression to vowel repetition and enhanced responses to vowel/pitch change decreased with age over posterior regions, becoming more frontally specific; age-related change was diminished in the NF1 group. Whilst both groups detected changes in vowel and pitch, the NF1 group were largely slower to show a differentiated neural response. Auditory responses did not relate to later language, but were related to later ASD traits. Conclusions: These findings represent the first demonstration of atypical brain responses to sounds in infants with NF1 and suggest they may relate to the likelihood of later ASD.

Published
2021
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23. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Author

Taylor, Robert W., Pyle, Angela, Griffin, Helen, Blakely, Emma L., Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L., Neeve, Vivienne C., Best, Andrew, Yarham, John W., Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A. M., Vassallo, Grace, Gorman, Grainne S., Ramesh, Venkateswaran, Turnbull, Douglass M., Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, and Chinnery, Patrick F.

Published
2014
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24. Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1

Author

Pobric, Gorana, primary, Taylor, Jason R., additional, Ramalingam, Hemavathy M., additional, Pye, Emily, additional, Robinson, Louise, additional, Vassallo, Grace, additional, Jung, JeYoung, additional, Bhandary, Misty, additional, Szumanska-Ryt, Karolina, additional, Theodosiou, Louise, additional, Evans, D. Gareth, additional, Eelloo, Judith, additional, Burkitt-Wright, Emma, additional, Hulleman, Johan, additional, Green, Jonathan, additional, and Garg, Shruti, additional

Published
2021
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25. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Author

Alsharhan, Hind, primary, He, Miao, additional, Edmondson, Andrew C., additional, Daniel, Earnest J. P., additional, Chen, Jie, additional, Donald, Tyhiesia, additional, Bakhtiari, Somayeh, additional, Amor, David J., additional, Jones, Elizabeth A., additional, Vassallo, Grace, additional, Vincent, Marie, additional, Cogné, Benjamin, additional, Deb, Wallid, additional, Werners, Arend H., additional, Jin, Sheng C., additional, Bilguvar, Kaya, additional, Christodoulou, John, additional, Webster, Richard I., additional, Yearwood, Katherine R., additional, Ng, Bobby G., additional, Freeze, Hudson H., additional, Kruer, Michael C., additional, Li, Dong, additional, Raymond, Kimiyo M., additional, Bhoj, Elizabeth J., additional, and Sobering, Andrew K., additional

Published
2021
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26. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

Author

Tang, Shan, Addis, Laura, Smith, Anna, Topp, Simon D., Pendziwiat, Manuela, Mei, Davide, Parker, Alasdair, Agrawal, Shakti, Hughes, Elaine, Lascelles, Karine, Williams, Ruth E., Fallon, Penny, Robinson, Robert, Cross, Helen J., Hedderly, Tammy, Eltze, Christin, Kerr, Tim, Desurkar, Archana, Hussain, Nahin, Kinali, Maria, Bagnasco, Irene, Vassallo, Grace, Whitehouse, William, Goyal, Sushma, Absoud, Michael, Møller, Rikke S., Helbig, Ingo, Weber, Yvonne G., Marini, Carla, Guerrini, Renzo, Simpson, Michael A., Pal, Deb K., Craiu, Dana, Davila, Carol, Obregia, Alexandru, De Jonghe, Peter, Lehesjoki, Anna‐Elina, Muhle, Hiltrud, Neubauer, Bernd, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Caglayan, Hande, Hoffman‐Zacharska, Dorota, Department of Medical and Clinical Genetics, Neuroscience Center, University of Helsinki, and EuroEPINOMICS-RES Consortium

Subjects
Male, 0301 basic medicine, Pediatrics, INTELLECTUAL DISABILITY, PROGNOSIS, Autism Spectrum Disorder, PROTEIN, Epilepsies, Myoclonic, VARIANTS, epilepsy/seizures, 3124 Neurology and psychiatry, Epilepsy, myoclonic astatic epilepsy, 0302 clinical medicine, OF-FUNCTION MUTATIONS, genetics, Age of Onset, Child, Exome, Doose syndrome, seizures, FEBRILE SEIZURES, Seizure types, Electroencephalography, 3. Good health, Phenotype, Neurology, Autism spectrum disorder, Child, Preschool, Epilepsy, Generalized, Female, medicine.medical_specialty, GENERALIZED EPILEPSY, Neuroimaging, 03 medical and health sciences, Exome Sequencing, medicine, Myoclonic atonic seizures, Humans, Generalized epilepsy, AUTISM, ASTATIC EPILEPSY, business.industry, 3112 Neurosciences, Infant, medicine.disease, 030104 developmental biology, Myoclonic astatic epilepsy, Attention Deficit Disorder with Hyperactivity, DE-NOVO MUTATIONS, Autism, epilepsy, Human medicine, Neurology (clinical), 3111 Biomedicine, business, 030217 neurology & neurosurgery
Abstract

OBJECTIVE: We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE).METHODS: We deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention-deficit/hyperactivity disorder using standardized neuropsychological instruments. We performed exome analysis (whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets to identify genetic etiologies.RESULTS: We analyzed 101 patients with MAE (70% male). The median age of seizure onset was 34 months (range = 6-72 months). The main seizure types were myoclonic atonic or atonic in 100%, generalized tonic-clonic in 72%, myoclonic in 69%, absence in 60%, and tonic seizures in 19% of patients. We observed intellectual disability in 62% of patients, with extremely low adaptive behavioral scores in 69%. In addition, 24% exhibited symptoms of autism and 37% exhibited attention-deficit/hyperactivity symptoms. We discovered pathogenic variants in 12 (14%) of 85 patients, including five previously published patients. These were pathogenic genetic variants in SYNGAP1 (n = 3), KIAA2022 (n = 2), and SLC6A1 (n = 2), as well as KCNA2, SCN2A, STX1B, KCNB1, and MECP2 (n = 1 each). We also identified three new candidate genes, ASH1L, CHD4, and SMARCA2 in one patient each.SIGNIFICANCE: MAE is associated with significant neurodevelopmental impairment. MAE is genetically heterogeneous, and we identified a pathogenic genetic etiology in 14% of this cohort by exome analysis. These findings suggest that MAE is a manifestation of several etiologies rather than a discrete syndromic entity.

Published
2020

27. Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution

Author

Forde, Claire, primary, King, Andrew T, additional, Rutherford, Scott A, additional, Hammerbeck-Ward, Charlotte, additional, Lloyd, Simon K, additional, Freeman, Simon R, additional, Pathmanaban, Omar N, additional, Stapleton, Emma, additional, Thomas, Owen M, additional, Laitt, Roger D, additional, Stivaros, Stavros, additional, Kilday, John-Paul, additional, Vassallo, Grace, additional, McBain, Catherine, additional, Kerrigan, Simon, additional, Smith, Miriam J, additional, McCabe, Martin G, additional, Harkness, Elaine F, additional, and Evans, D Gareth, additional

Published
2020
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28. An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms

Author

Fong, Choong YI, Osborne, John P, Edwards, Stuart W, Hemingway, Cheryl, Hancock, Eleanor, Johnson, Anthony L, Kennedy, Colin R, Kneen, Rachel, Likeman, Marcus, Lux, Andrew L, Mordekar, Santosh R, Murugan, Velayutham, Newton, Richard W, Pike, Michael, Quinn, Michael, Spinty, Stefan, Vassallo, Grace, Verity, Christopher M, Whitney, Andrea, and OʼCallaghan, Finbar J K

Published
2013
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31. Perceived fatigue in children and young adults with neurofibromatosis type 1

Author

Vassallo, Grace, primary, Mughal, Zulf, additional, Robinson, Louise, additional, Weisberg, Daniel, additional, Roberts, Stephen A, additional, Hupton, Eileen, additional, Eelloo, Judith, additional, Burkitt Wright, Emma MM, additional, Garg, Shruti, additional, Lewis, Lauren, additional, Evans, D Gareth, additional, and Stivaros, Stavros M, additional

Published
2020
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32. Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

Author

Evans, D. Gareth, primary, Hartley, Claire L., additional, Smith, Philip T., additional, King, Andrew T., additional, Bowers, Naomi L., additional, Tobi, Simon, additional, Wallace, Andrew J., additional, Perry, Mary, additional, Anup, Raji, additional, Lloyd, Simon K.W., additional, Rutherford, Scott A., additional, Hammerbeck-Ward, Charlotte, additional, Pathmanaban, Omar N., additional, Stapleton, Emma, additional, Freeman, Simon R., additional, Kellett, Mark, additional, Halliday, Dorothy, additional, Parry, Allyson, additional, Gair, Juliette J., additional, Axon, Patrick, additional, Laitt, Roger, additional, Thomas, Owen, additional, Afridi, Shazia K., additional, Obholzer, Rupert, additional, Duff, Chris, additional, Stivaros, Stavros M., additional, Vassallo, Grace, additional, Harkness, Elaine F., additional, and Smith, Miriam J., additional

Published
2020
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35. Early development of infants with neurofibromatosis type 1: a case series

Author

Kolesnik, Anna May, Jones, Emily Jane Harrison, Garg, Shruti, Green, Jonathan, Charman, Tony, Johnson, Mark Henry, Baron-Cohen, Simon, Begum-Ali, Jannath, Bolton, Patrick, Cheung, Celeste, Dafner, Leila, Davies, Kim, Elsabbagh, Mayada, Fernandes, Janice, Fish, Laurel, Gammer, Isobel, Greensmith, Marian, Gliga, Teodora, Kalwarowsky, Sarah, Liew, Michelle, Pasco, Greg, Pickles, Andrew, Ribeiro, Helena, Salomone, Erica, Taylor, Chloe, Tucker, Leslie, Wass, Sam, Burkitt-Wright, Emma, Evans, D. Gareth, Vassallo, Grace, Eelloo, Judith, West, Siobhan, Howard, Elizabeth, Hupton, Eileen, Huson, Sue, Lewis, Lauren, Tricker, Karen, Dobbie, Angus, Drimer, Ruth, Sharif, Saghira Malik, Baralle, Diane, Redman, Carolyn, Sharif, Saba, Symth, Carolyn, Lam, Wayne, Bradbury, Alyson, Harrower, Neil, Quarrell, Oliver, Bethell, Helen, Jones, Rachel, Musson, Susan, Prem, Catherine, Splitt, Miranda, Horridge, Karen, Steiger, Christine, Jim, Carly, Kolesnik, A, Jones, E, Garg, S, Green, J, Charman, T, Johnson, M, Baron-Cohen, S, Begum-Ali, J, Bolton, P, Cheung, C, Dafner, L, Davies, K, Elsabbagh, M, Fernandes, J, Fish, L, Gammer, I, Greensmith, M, Gliga, T, Kalwarowsky, S, Liew, M, Pasco, G, Pickles, A, Ribeiro, H, Salomone, E, Taylor, C, Tucker, L, Wass, S, Burkitt-Wright, E, Evans, D, Vassallo, G, Eelloo, J, West, S, Howard, E, Hupton, E, Huson, S, Lewis, L, Tricker, K, Dobbie, A, Drimer, R, Sharif, S, Baralle, D, Redman, C, Symth, C, Lam, W, Bradbury, A, Harrower, N, Quarrell, O, Bethell, H, Jones, R, Musson, S, Prem, C, Splitt, M, Horridge, K, Steiger, C, Jim, C, Johnson, Mark [0000-0003-4229-2585], and Apollo - University of Cambridge Repository

Subjects
Male, Pediatrics, Autism Spectrum Disorder, Adaptive functioning, Autism, Prospective longitudinal, Developmental cognitive neuroscience, Language Development Disorder, lcsh:RC346-429, psyc, 0302 clinical medicine, Cognition, Development, Infant, NF1, Sensory processing, Social engagement, Translational neurodevelopment, Activities of Daily Living, Communication, Female, Humans, Language Development Disorders, Motor Activity, Neurofibromatosis 1, Prospective Studies, Risk, Temperament, Molecular Biology, Developmental Neuroscience, Developmental Biology, Psychiatry and Mental Health, Prospective cohort study, media_common, 05 social sciences, Neuropsychology, Autism spectrum disorder, Cohort, Psychology, 050104 developmental & child psychology, Human, medicine.medical_specialty, media_common.quotation_subject, behavioral disciplines and activities, 03 medical and health sciences, mental disorders, medicine, 0501 psychology and cognitive sciences, Neurofibromatosis, lcsh:Neurology. Diseases of the nervous system, Research, medicine.disease, Prospective Studie, 030217 neurology & neurosurgery
Abstract

Background Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD (n = 34), atypical development (n = 44), or typical development (n = 89), and low-risk controls (n = 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament. Results Infants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants. Conclusions Ten-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder. Electronic supplementary material The online version of this article (10.1186/s13229-017-0178-0) contains supplementary material, which is available to authorized users.

Published
2017

36. Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.

Author

Forde, Claire, King, Andrew T, Rutherford, Scott A, Hammerbeck-Ward, Charlotte, Lloyd, Simon K, Freeman, Simon R, Pathmanaban, Omar N, Stapleton, Emma, Thomas, Owen M, Laitt, Roger D, Stivaros, Stavros, Kilday, John-Paul, Vassallo, Grace, McBain, Catherine, Kerrigan, Simon, Smith, Miriam J, McCabe, Martin G, Harkness, Elaine F, and Evans, D Gareth

Published
2021
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37. Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

Author

Van Eyck, Lien, primary, Bruni, Francesco, primary, Ronan, Anne, additional, Briggs, Tracy A., additional, Roscioli, Tony, additional, Rice, Gillian I., additional, Vassallo, Grace, additional, Rodero, Mathieu P., additional, He, Langping, additional, Taylor, Robert W., additional, Livingston, John H., additional, Chrzanowska-Lightowlers, Zofia M. A., additional, and Crow, Yanick J., additional

Published
2019
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38. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Author

Ng, Yi Shiau, Alston, Charlotte L., Diodato, Daria, Morris, Andrew A., Ulrick, Nicole, Kmoch, Stanislav, Houstek, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvilova, Hana, Santra, Saikat, Brown, Ruth M., Brown, Garry K., Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P., Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Ostergaard, Elsebet, Vanderver, Adeline, Goldstein, Amy, Vogt, Julie, Taylor, Robert W., McFarland, Robert, [Ng, Yi Shiau] Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, [Alston, Charlotte L.] Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, [Taylor, Robert W.] Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, [McFarland, Robert] Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, [Diodato, Daria] Children Res Hosp Bambino Gesu, Neuromuscular & Neurodegenerat Dis Unit, Rome, Italy, [Morris, Andrew A.] Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Dept Med Genet, Manchester, Lancs, England, [Ulrick, Nicole] George Washington Univ, Sch Med, Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA, [Vanderver, Adeline] George Washington Univ, Sch Med, Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA, [Kmoch, Stanislav] Charles Univ Prague, Inst Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic, [Houstek, Josef] Acad Sci Czech Republic, Inst Physiol, Prague, Czech Republic, [Martinelli, Diego] Children Res Hosp Bambino Gesu, Div Metab, Rome, Italy, [Haghighi, Alireza] Harvard Med Sch, Dept Genet, Boston, MA USA, [Haghighi, Alireza] Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA, [Haghighi, Alireza] Brigham & Womens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA, [Atiq, Mehnaz] Aga Khan Univ, Dept Pediat, Karachi, Pakistan, [Gamero, Montserrat Anton] Hosp Univ Reina Sofia, Pediat Nephrol Unit, Cordoba, Spain, [Garcia-Martinez, Elena] Hosp Univ Reina Sofia, Pediat Nephrol Unit, Cordoba, Spain, [Kratochvilova, Hana] Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Prague, Czech Republic, [Kratochvilova, Hana] Gen Univ Hosp Prague, Prague, Czech Republic, [Santra, Saikat] Birmingham Childrens Hosp NHS Fdn Trust, Dept Clin Inherited Metab Disorders, Birmingham, W Midlands, England, [Brown, Ruth M.] Oxford Univ Hosp NHS Fdn Trust, Churchill Hosp, Oxford Med Genet Labs, Oxford, England, [Brown, Garry K.] Oxford Univ Hosp NHS Fdn Trust, Churchill Hosp, Oxford Med Genet Labs, Oxford, England, [Ragge, Nicola] Birmingham Womens NHS Fdn Trust, West Midlands Reg Genet Serv, Clin Genet Unit, Birmingham, W Midlands, England, [Monavari, Ahmad] Temple St Childrens Univ Hosp, Natl Ctr Inherited Metab Disorders, Dublin, Ireland, [Pysden, Karen] Leeds Gen Infirm, Dept Paediat Med, Leeds, W Yorkshire, England, [Childs, Anne-Marie] Leeds Gen Infirm, Dept Paediat Med, Leeds, W Yorkshire, England, [Ravn, Kirstine] Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark, [Ostergaard, Elsebet] Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark, [Casey, Jillian P.] Temple St Childrens Univ Hosp, Dept Clin Genet, Dublin, Ireland, [Khan, Arif] Leicester Royal Infirm, Leicester Childrens Hosp, Leicester, Leics, England, [Chakrapani, Anupam] Great Ormond St Hosp NHS Fdn Trust, Dept Metab Med, London, England, [Vassallo, Grace] Cent Manchester Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, Manchester, Lancs, England, [Simons, Cas] Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia, [McKeever, Karl] Royal Belfast Hosp Sick Children, Dept Paediat Med, Belfast, Antrim, North Ireland, [O'Sullivan, Siobhan] Royal Belfast Hosp Sick Children, Dept Paediat Med, Belfast, Antrim, North Ireland, [Goldstein, Amy] Childrens Hosp Pittsburgh, Div Child Neurol, Pittsburgh, PA USA, [Vogt, Julie] Univ Birmingham, Sch Clin & Expt Med, Ctr Rare Dis & Personalised Med, Dept Med & Mol Genet, Birmingham, W Midlands, England, [Ragge, Nicola] Oxford Brookes Univ, Fac Hlth & Life Sci, Oxford, England, Wellcome Trust, Medical Research Council, UK NHS Specialised Services and Newcastle upon Tyne Hospitals NHS Foundation Trust, National Institute for Health Research (NIHR), Charles University, BIOCEV -Biotechnology and Biomedicine Centre of the Academy of Sciences, European Regional Development Fund, Grant Agency of the Czech Republic, Ministry of Education of the Czech Republic, Ministry of Education, Ministry of Health of the Czech Republic, MRC, National Institute for Health Research, and NIHR Newcastle Biomedical Research Centre

Subjects
Translation, Complex deficiencies, Rmnd1 mutation, Defect, Renal-failure, Encephaloneuromyopathy
Abstract

Background Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects. Methods We summarised the clinical, biochemical and molecular genetic investigation of an international cohort of affected individuals with RMND1 mutations. In addition, we reviewed all the previously published cases to determine the genotype–phenotype correlates and performed survival analysis to identify prognostic factors. Results We identified 14 new cases from 11 pedigrees that harbour recessive RMND1 mutations, including 6 novel variants: c.533C>A, p.(Thr178Lys); c.565C>T, p.(Gln189*); c.631G>A, p.(Val211Met); c.1303C>T, p.(Leu435Phe); c.830+1G>A and c.1317+1G>T. Together with all previously published cases (n=32), we show that congenital sensorineural deafness, hypotonia, developmental delay and lactic acidaemia are common clinical manifestations with disease onset under 2 years. Renal involvement is more prevalent than seizures (66% vs 44%). In addition, median survival time was longer in patients with renal involvement compared with those without renal disease (6 years vs 8 months, p=0.009). The neurological phenotype also appears milder in patients with renal involvement. Conclusions The clinical phenotypes and prognosis associated with RMND1 mutations are more heterogeneous than that were initially described. Regular monitoring of kidney function is imperative in the clinical practice in light of nephropathy being present in over 60% of cases. Furthermore, renal replacement therapy should be considered particularly in those patients with mild neurological manifestation as shown in our study that four recipients of kidney transplant demonstrate good clinical outcome to date.

Published
2016

39. Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.

Author

Van Eyck, Lien, Bruni, Francesco, Ronan, Anne, Briggs, Tracy A., Roscioli, Tony, Rice, Gillian I., Vassallo, Grace, Rodero, Mathieu P., He, Langping, Taylor, Robert W., Livingston, John H., Chrzanowska-Lightowlers, Zofia M. A., and Crow, Yanick J.

Subjects
AMISH, GENETIC regulation, MITOCHONDRIAL proteins, RECESSIVE genes, LEBER'S hereditary optic atrophy, PROTEIN expression, PROTEIN synthesis, GAIN-of-function mutations
Abstract

Background A homozygous founder mutation in MTPAP / TENT6 , encoding mitochondrial poly(A) polymerase (MTPAP), was first reported in six individuals of Old Order Amish descent demonstrating an early-onset, progressive spastic ataxia with optic atrophy and learning difficulties. MTPAP contributes to the regulation of mitochondrial gene expression through the polyadenylation of mitochondrially encoded mRNAs. Mitochondrial mRNAs with severely truncated poly(A) tails were observed in affected individuals, and mitochondrial protein expression was altered. Objective To determine the genetic basis of a perinatal encephalopathy associated with stereotyped neuroimaging and infantile death in three patients from two unrelated families. Methods Whole-exome sequencing was performed in two unrelated patients and the unaffected parents of one of these individuals. Variants and familial segregation were confirmed by Sanger sequencing. Polyadenylation of mitochondrial transcripts and de novo synthesis of mitochondrial proteins were assessed in patient's fibroblasts. Results Compound heterozygous p.Ile428Thr and p.Arg523Trp substitutions in MTPAP were recorded in two affected siblings from one family, and a homozygous p.Ile385Phe missense variant identified in a further affected child from a second sibship. Mitochondrial poly(A) tail analysis demonstrated shorter posttranscriptional additions to the mitochondrial transcripts, as well as an altered expression of mitochondrial proteins in the fibroblasts of the two siblings compared with healthy controls. Conclusion Mutations in MTPAP likely cause an autosomal recessive perinatal encephalopathy with lethality in the first year of life. [ABSTRACT FROM AUTHOR]

Published
2020
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40. 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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41. Early development of infants with neurofibromatosis type 1: A case series

Author

Kolesnik, A, Jones, E, Garg, S, Green, J, Charman, T, Johnson, M, Baron-Cohen, S, Begum-Ali, J, Bolton, P, Cheung, C, Dafner, L, Davies, K, Elsabbagh, M, Fernandes, J, Fish, L, Gammer, I, Greensmith, M, Gliga, T, Kalwarowsky, S, Liew, M, Pasco, G, Pickles, A, Ribeiro, H, Salomone, E, Taylor, C, Tucker, L, Wass, S, Burkitt-Wright, E, Evans, D, Vassallo, G, Eelloo, J, West, S, Howard, E, Hupton, E, Huson, S, Lewis, L, Tricker, K, Dobbie, A, Drimer, R, Sharif, S, Baralle, D, Redman, C, Symth, C, Lam, W, Bradbury, A, Harrower, N, Quarrell, O, Bethell, H, Jones, R, Musson, S, Prem, C, Splitt, M, Horridge, K, Steiger, C, Jim, C, Kolesnik, Anna May, Jones, Emily Jane Harrison, Garg, Shruti, Green, Jonathan, Charman, Tony, Johnson, Mark Henry, Baron-Cohen, Simon, Begum-Ali, Jannath, Bolton, Patrick, Cheung, Celeste, Dafner, Leila, Davies, Kim, Elsabbagh, Mayada, Fernandes, Janice, Fish, Laurel, Gammer, Isobel, Greensmith, Marian, Gliga, Teodora, Kalwarowsky, Sarah, Liew, Michelle, Pasco, Greg, Pickles, Andrew, Ribeiro, Helena, Salomone, Erica, Taylor, Chloe, Tucker, Leslie, Wass, Sam, Burkitt-Wright, Emma, Evans, D. Gareth, Vassallo, Grace, Eelloo, Judith, West, Siobhan, Howard, Elizabeth, Hupton, Eileen, Huson, Sue, Lewis, Lauren, Tricker, Karen, Dobbie, Angus, Drimer, Ruth, Sharif, Saghira Malik, Baralle, Diane, Redman, Carolyn, Sharif, Saba, Symth, Carolyn, Lam, Wayne, Bradbury, Alyson, Harrower, Neil, Quarrell, Oliver, Bethell, Helen, Jones, Rachel, Musson, Susan, Prem, Catherine, Splitt, Miranda, Horridge, Karen, Steiger, Christine, Jim, Carly, Kolesnik, A, Jones, E, Garg, S, Green, J, Charman, T, Johnson, M, Baron-Cohen, S, Begum-Ali, J, Bolton, P, Cheung, C, Dafner, L, Davies, K, Elsabbagh, M, Fernandes, J, Fish, L, Gammer, I, Greensmith, M, Gliga, T, Kalwarowsky, S, Liew, M, Pasco, G, Pickles, A, Ribeiro, H, Salomone, E, Taylor, C, Tucker, L, Wass, S, Burkitt-Wright, E, Evans, D, Vassallo, G, Eelloo, J, West, S, Howard, E, Hupton, E, Huson, S, Lewis, L, Tricker, K, Dobbie, A, Drimer, R, Sharif, S, Baralle, D, Redman, C, Symth, C, Lam, W, Bradbury, A, Harrower, N, Quarrell, O, Bethell, H, Jones, R, Musson, S, Prem, C, Splitt, M, Horridge, K, Steiger, C, Jim, C, Kolesnik, Anna May, Jones, Emily Jane Harrison, Garg, Shruti, Green, Jonathan, Charman, Tony, Johnson, Mark Henry, Baron-Cohen, Simon, Begum-Ali, Jannath, Bolton, Patrick, Cheung, Celeste, Dafner, Leila, Davies, Kim, Elsabbagh, Mayada, Fernandes, Janice, Fish, Laurel, Gammer, Isobel, Greensmith, Marian, Gliga, Teodora, Kalwarowsky, Sarah, Liew, Michelle, Pasco, Greg, Pickles, Andrew, Ribeiro, Helena, Salomone, Erica, Taylor, Chloe, Tucker, Leslie, Wass, Sam, Burkitt-Wright, Emma, Evans, D. Gareth, Vassallo, Grace, Eelloo, Judith, West, Siobhan, Howard, Elizabeth, Hupton, Eileen, Huson, Sue, Lewis, Lauren, Tricker, Karen, Dobbie, Angus, Drimer, Ruth, Sharif, Saghira Malik, Baralle, Diane, Redman, Carolyn, Sharif, Saba, Symth, Carolyn, Lam, Wayne, Bradbury, Alyson, Harrower, Neil, Quarrell, Oliver, Bethell, Helen, Jones, Rachel, Musson, Susan, Prem, Catherine, Splitt, Miranda, Horridge, Karen, Steiger, Christine, and Jim, Carly

Abstract

Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology. We compared data from infants with NF1 to a large cohort of infants at familial risk for ASD, separated by outcome at age 3 of ASD (n = 34), atypical development (n = 44), or typical development (n = 89), and low-risk controls (n = 75). Domains assessed at 10 months by parent report and examiner observation include cognitive and adaptive function, sensory processing, social engagement, and temperament. Results: Infants with NF1 showed striking impairments in motor functioning relative to low-risk infants; this pattern was seen in infants with later ASD from the familial cohort (HR-ASD). Both infants with NF1 and the HR-ASD group showed communication delays relative to low-risk infants. Conclusions: Ten-month-old infants with NF1 show a range of developmental difficulties that were particularly striking in motor and communication domains. As with HR-ASD infants, social skills at this age were not notably impaired. This is some of the first information on early neurodevelopment in NF1. Strong inferences are limited by the sample size, but the findings suggest implications for early comparative developmental science and highlight motor functioning as an important domain to inform the development of relevant animal models. The findings have clinical implications in indicating an important focus for early surveillance and remediation in this early diagnosed genetic disorder.

Published
2017

44. Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Author

Stödberg, Tommy, McTague, Amy, Ruiz, Arnaud J., Hirata, Hiromi, Zhen, Juan, Long, Philip, Farabella, Irene, Meyer, Esther, Kawahara, Atsuo, Vassallo, Grace, Stivaros, Stavros M., Bjursell, Magnus K., Stranneheim, Henrik, Tigerschiöld, Stephanie, Persson, Bengt, Bangash, Iftikhar, Das, Krishna, Hughes, Deborah, Lesko, Nicole, Lundeberg, Joakim, Scott, Rod C., Poduri, Annapurna, Scheffer, Ingrid E., Smith, Holly, Gissen, Paul, Schorge, Stephanie, Reith, Maarten E. A., Topf, Maya, Kullmann, Dimitri M., Harvey, Robert J., Wedell, Anna, and Kurian, Manju A.

Subjects
Male, Neurons, Patch-Clamp Techniques, Symporters, Cell- och molekylärbiologi, Immunoblotting, Infant, Pediatrik, Neural Inhibition, Sequence Analysis, DNA, Zebrafish Proteins, bcs, Pediatrics, Article, Pedigree, HEK293 Cells, Chlorides, Child, Preschool, Mutation, Animals, Humans, Epilepsies, Partial, Child, Zebrafish, Cell and Molecular Biology
Abstract

The potassium-chloride co-transporter KCC2, encoded by SLC12A5, plays a fundamental role in fast synaptic inhibition by maintaining a hyperpolarizing gradient for chloride ions. KCC2 dysfunction has been implicated in human epilepsy, but to date, no monogenic KCC2-related epilepsy disorders have been described. Here we show recessive loss-of-function SLC12A5 mutations in patients with a severe infantile-onset pharmacoresistant epilepsy syndrome, epilepsy of infancy with migrating focal seizures (EIMFS). Decreased KCC2 surface expression, reduced protein glycosylation and impaired chloride extrusion contribute to loss of KCC2 activity, thereby impairing normal synaptic inhibition and promoting neuronal excitability in this early-onset epileptic encephalopathy., The potassium-chloride co-transporter, KCC2 is an essential component in maintaining a gradient for chloride ions in neurons. Here Stodberg and colleagues identify loss-of-function mutations in the encoding gene SLC12A5, which impair normal synaptic function associated with early-onset epilepsy.

Published
2015

45. Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity.

Author

Halliday, Dorothy, Emmanouil, Beatrice, Vassallo, Grace, Lascelles, Karine, Nicholson, James, Chandratre, Saleel, Anand, Geetha, Wasik, Martin, Pretorius, Pieter, Evans, D. Gareth, Parry, Allyson, Axon, Patrick, Gair, Juliette, Smyth, Carolyn, Afridi, Shazia K, Obholzer, Rupert, Everett, Vanessa, Jarvis, Nicola, Henshaw, Kirsty, and Hanemann, C Oliver

Subjects
NEUROFIBROMATOSIS 2, VESTIBULAR nerve, ACOUSTIC neuroma, SPINAL surgery, PHENOTYPES
Abstract

Childhood onset neurofibromatosis type 2 can be severe and genotype dependent. We present a retrospective phenotypic analysis of all ascertained children in England 1.0). Focal cortical dysplasia occurred in 26% group 3 and 4% 2A. A total of 48% of group 3 underwent ≥1 major intervention (intracranial/spinal surgery/Bevacizumab/radiotherapy) compared to 35% of 2A; with 23% group 3 undergoing spinal surgery (schwannoma/ependymoma/meningioma resection) compared to 4% of 2A. Mean age starting Bevacizumab was 12.7 in group 3 and 14.9 years in 2A. In conclusion, group 3 phenotype manifests earlier with greater tumour load, poorer visual outcomes and more intervention. [ABSTRACT FROM AUTHOR]

Published
2019
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46. The clinical, biochemical and genetic features associated withRMND1-related mitochondrial disease

Author

Ng, Yi Shiau, primary, Alston, Charlotte L, additional, Diodato, Daria, additional, Morris, Andrew A, additional, Ulrick, Nicole, additional, Kmoch, Stanislav, additional, Houštěk, Josef, additional, Martinelli, Diego, additional, Haghighi, Alireza, additional, Atiq, Mehnaz, additional, Gamero, Montserrat Anton, additional, Garcia-Martinez, Elena, additional, Kratochvílová, Hana, additional, Santra, Saikat, additional, Brown, Ruth M, additional, Brown, Garry K, additional, Ragge, Nicola, additional, Monavari, Ahmad, additional, Pysden, Karen, additional, Ravn, Kirstine, additional, Casey, Jillian P, additional, Khan, Arif, additional, Chakrapani, Anupam, additional, Vassallo, Grace, additional, Simons, Cas, additional, McKeever, Karl, additional, O'Sullivan, Siobhan, additional, Childs, Anne-Marie, additional, Østergaard, Elsebet, additional, Vanderver, Adeline, additional, Goldstein, Amy, additional, Vogt, Julie, additional, Taylor, Robert W, additional, and McFarland, Robert, additional

Published
2016
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47. Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

Author

Crow, Yanick J., primary, Chase, Diana S., additional, Lowenstein Schmidt, Johanna, additional, Szynkiewicz, Marcin, additional, Forte, Gabriella M.A., additional, Gornall, Hannah L., additional, Oojageer, Anthony, additional, Anderson, Beverley, additional, Pizzino, Amy, additional, Helman, Guy, additional, Abdel-Hamid, Mohamed S., additional, Abdel-Salam, Ghada M., additional, Ackroyd, Sam, additional, Aeby, Alec, additional, Agosta, Guillermo, additional, Albin, Catherine, additional, Allon-Shalev, Stavit, additional, Arellano, Montse, additional, Ariaudo, Giada, additional, Aswani, Vijay, additional, Babul-Hirji, Riyana, additional, Baildam, Eileen M., additional, Bahi-Buisson, Nadia, additional, Bailey, Kathryn M., additional, Barnerias, Christine, additional, Barth, Magalie, additional, Battini, Roberta, additional, Beresford, Michael W., additional, Bernard, Geneviève, additional, Bianchi, Marika, additional, Billette de Villemeur, Thierry, additional, Blair, Edward M., additional, Bloom, Miriam, additional, Burlina, Alberto B., additional, Luisa Carpanelli, Maria, additional, Carvalho, Daniel R., additional, Castro-Gago, Manuel, additional, Cavallini, Anna, additional, Cereda, Cristina, additional, Chandler, Kate E., additional, Chitayat, David A., additional, Collins, Abigail E., additional, Sierra Corcoles, Concepcion, additional, Cordeiro, Nuno J.V., additional, Crichiutti, Giovanni, additional, Dabydeen, Lyvia, additional, Dale, Russell C., additional, D′Arrigo, Stefano, additional, De Goede, Christian G.E.L., additional, De Laet, Corinne, additional, De Waele, Liesbeth M.H., additional, Denzler, Ines, additional, Desguerre, Isabelle, additional, Devriendt, Koenraad, additional, Di Rocco, Maja, additional, Fahey, Michael C., additional, Fazzi, Elisa, additional, Ferrie, Colin D., additional, Figueiredo, António, additional, Gener, Blanca, additional, Goizet, Cyril, additional, Gowrinathan, Nirmala R., additional, Gowrishankar, Kalpana, additional, Hanrahan, Donncha, additional, Isidor, Bertrand, additional, Kara, Bülent, additional, Khan, Nasaim, additional, King, Mary D., additional, Kirk, Edwin P., additional, Kumar, Ram, additional, Lagae, Lieven, additional, Landrieu, Pierre, additional, Lauffer, Heinz, additional, Laugel, Vincent, additional, Piana, Roberta La, additional, Lim, Ming J., additional, Lin, Jean-Pierre S.-M., additional, Linnankivi, Tarja, additional, Mackay, Mark T., additional, Marom, Daphna R., additional, Marques Lourenço, Charles, additional, McKee, Shane A., additional, Moroni, Isabella, additional, Morton, Jenny E.V., additional, Moutard, Marie-Laure, additional, Murray, Kevin, additional, Nabbout, Rima, additional, Nampoothiri, Sheela, additional, Nunez-Enamorado, Noemi, additional, Oades, Patrick J., additional, Olivieri, Ivana, additional, Ostergaard, John R., additional, Pérez-Dueñas, Belén, additional, Prendiville, Julie S., additional, Ramesh, Venkateswaran, additional, Rasmussen, Magnhild, additional, Régal, Luc, additional, Ricci, Federica, additional, Rio, Marlène, additional, Rodriguez, Diana, additional, Roubertie, Agathe, additional, Salvatici, Elisabetta, additional, Segers, Karin A., additional, Sinha, Gyanranjan P., additional, Soler, Doriette, additional, Spiegel, Ronen, additional, Stödberg, Tommy I., additional, Straussberg, Rachel, additional, Swoboda, Kathryn J., additional, Suri, Mohnish, additional, Tacke, Uta, additional, Tan, Tiong Y., additional, te Water Naude, Johann, additional, Wee Teik, Keng, additional, Mary Thomas, Maya, additional, Till, Marianne, additional, Tonduti, Davide, additional, Maria Valente, Enza, additional, Noel Van Coster, Rudy, additional, van der Knaap, Marjo S., additional, Vassallo, Grace, additional, Vijzelaar, Raymon, additional, Vogt, Julie, additional, Wallace, Geoffrey B., additional, Wassmer, Evangeline, additional, Webb, Hannah J., additional, Whitehouse, William P., additional, Whitney, Robyn N., additional, Zaki, Maha S., additional, Zuberi, Sameer M., additional, Livingston, John H., additional, Rozenberg, Flore, additional, Lebon, Pierre, additional, Vanderver, Adeline, additional, Orcesi, Simona, additional, and Rice, Gillian I., additional

Published
2015
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48. New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms

Author

Bode, Anna, primary, Wood, Sian-Elin, additional, Mullins, Jonathan G.L., additional, Keramidas, Angelo, additional, Cushion, Thomas D., additional, Thomas, Rhys H., additional, Pickrell, William O., additional, Drew, Cheney J.G., additional, Masri, Amira, additional, Jones, Elizabeth A., additional, Vassallo, Grace, additional, Born, Alfred P., additional, Alehan, Fusun, additional, Aharoni, Sharon, additional, Bannasch, Gerald, additional, Bartsch, Marius, additional, Kara, Bulent, additional, Krause, Amanda, additional, Karam, Elie G., additional, Matta, Stephanie, additional, Jain, Vivek, additional, Mandel, Hanna, additional, Freilinger, Michael, additional, Graham, Gail E., additional, Hobson, Emma, additional, Chatfield, Sue, additional, Vincent-Delorme, Catherine, additional, Rahme, Jubran E., additional, Afawi, Zaid, additional, Berkovic, Samuel F., additional, Howell, Owain W., additional, Vanbellinghen, Jean-François, additional, Rees, Mark I., additional, Chung, Seo-Kyung, additional, and Lynch, Joseph W., additional

Published
2013
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