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11 results on '"Nolan, M.A."'

3. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Author

Helbig, K.L., Lauerer, R.J., Bahr, J.C., Souza, I.A., Myers, C.T., Uysal, B., Schwarz, N., Gandini, M.A., Huang, S., Keren, B., Mignot, C., Afenjar, A., Villemeur, T. Billette de, Heron, D., Nava, C., Valence, S., Buratti, J., Fagerberg, C.R., Soerensen, K.P., Kibaek, M., Kamsteeg, E.J., Koolen, D.A., Gunning, B., Schelhaas, H.J., Kruer, M.C., Fox, J., Bakhtiari, S., Jarrar, R., Padilla-Lopez, S., Lindstrom, K., Jin, S.C., Zeng, X., Bilguvar, K., Papavasileiou, A., Xin, Q., Zhu, C., Boysen, K., Vairo, F., Lanpher, B.C., Klee, E.W., Tillema, J.M., Payne, E.T., Cousin, M.A., Kruisselbrink, T.M., Wick, M.J., Baker, J., Haan, E., Smith, N., Corbett, M.A., MacLennan, A.H., Gecz, J., Biskup, S., Goldmann, E., Rodan, L.H., Kichula, E., Segal, E., Jackson, K.E., Asamoah, A., Dimmock, D., McCarrier, J., Botto, L.D., Filloux, F., Tvrdik, T., Cascino, G.D., Klingerman, S., Neumann, C., Wang, R., Jacobsen, J.C., Nolan, M.A., Snell, R.G., Lehnert, K., Sadleir, L.G., Anderlid, B.M., Kvarnung, M., Guerrini, R., Friez, M.J., Lyons, M.J., Leonhard, J., Kringlen, G., Casas, K., Achkar, C.M. El, Smith, L.A., Rotenberg, A., Poduri, A., Sanchis-Juan, A., Carss, K.J., Rankin, J., Zeman, A., Raymond, F.L., Blyth, M., Kerr, B., Ruiz, K., Urquhart, J., Hughes, I., Banka, S., Hedrich, U.B.S., Scheffer, I.E., Helbig, I., Zamponi, G.W., Lerche, H., et al., Helbig, K.L., Lauerer, R.J., Bahr, J.C., Souza, I.A., Myers, C.T., Uysal, B., Schwarz, N., Gandini, M.A., Huang, S., Keren, B., Mignot, C., Afenjar, A., Villemeur, T. Billette de, Heron, D., Nava, C., Valence, S., Buratti, J., Fagerberg, C.R., Soerensen, K.P., Kibaek, M., Kamsteeg, E.J., Koolen, D.A., Gunning, B., Schelhaas, H.J., Kruer, M.C., Fox, J., Bakhtiari, S., Jarrar, R., Padilla-Lopez, S., Lindstrom, K., Jin, S.C., Zeng, X., Bilguvar, K., Papavasileiou, A., Xin, Q., Zhu, C., Boysen, K., Vairo, F., Lanpher, B.C., Klee, E.W., Tillema, J.M., Payne, E.T., Cousin, M.A., Kruisselbrink, T.M., Wick, M.J., Baker, J., Haan, E., Smith, N., Corbett, M.A., MacLennan, A.H., Gecz, J., Biskup, S., Goldmann, E., Rodan, L.H., Kichula, E., Segal, E., Jackson, K.E., Asamoah, A., Dimmock, D., McCarrier, J., Botto, L.D., Filloux, F., Tvrdik, T., Cascino, G.D., Klingerman, S., Neumann, C., Wang, R., Jacobsen, J.C., Nolan, M.A., Snell, R.G., Lehnert, K., Sadleir, L.G., Anderlid, B.M., Kvarnung, M., Guerrini, R., Friez, M.J., Lyons, M.J., Leonhard, J., Kringlen, G., Casas, K., Achkar, C.M. El, Smith, L.A., Rotenberg, A., Poduri, A., Sanchis-Juan, A., Carss, K.J., Rankin, J., Zeman, A., Raymond, F.L., Blyth, M., Kerr, B., Ruiz, K., Urquhart, J., Hughes, I., Banka, S., Hedrich, U.B.S., Scheffer, I.E., Helbig, I., Zamponi, G.W., and Lerche, H., et al.

Abstract

Item does not contain fulltext, Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the alpha1-subunit of the voltage-gated CaV2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed CaV2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.

Published
2018

4. Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Author

Oates, E.C., Jones, K.J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J.E., Ware, J.S., Yau, K.S., Swanson, L.C., Whiffin, N., Peduto, A.J., Bournazos, A., Waddell, L.B., Farrar, M.A., Sampaio, H.A., Teoh, H.L., Lamont, P.J., Mowat, D., Fitzsimons, R.B., Corbett, A.J., Ryan, M.M., O'Grady, G.L., Sandaradura, S.A., Ghaoui, R., Joshi, H., Marshall, J.L., Nolan, M.A., Kaur, S., Punetha, J., Topf, A., Harris, E., Bakshi, M., Genetti, C.A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J.R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M.E., Foley, A.R., Bharucha-Goebel, D., Collins, J., Connolly, A.M., Gilbreath, H.R., Iannaccone, S.T., Castro, D., Cummings, B.B., Webster, R.I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H.M., Thomas, N.H., Foulds, N.C., Illingworth, M.A., Ellard, S., McLean, C.A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S.T., Kamsteeg, E.J., Hoffman, E.P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K.N., Clarke, N.F., Lek, M., Beggs, A.H., Bonnemann, C.G., MacArthur, D.G., Granzier, H., Davis, M.R., Laing, N.G., Oates, E.C., Jones, K.J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J.E., Ware, J.S., Yau, K.S., Swanson, L.C., Whiffin, N., Peduto, A.J., Bournazos, A., Waddell, L.B., Farrar, M.A., Sampaio, H.A., Teoh, H.L., Lamont, P.J., Mowat, D., Fitzsimons, R.B., Corbett, A.J., Ryan, M.M., O'Grady, G.L., Sandaradura, S.A., Ghaoui, R., Joshi, H., Marshall, J.L., Nolan, M.A., Kaur, S., Punetha, J., Topf, A., Harris, E., Bakshi, M., Genetti, C.A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J.R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M.E., Foley, A.R., Bharucha-Goebel, D., Collins, J., Connolly, A.M., Gilbreath, H.R., Iannaccone, S.T., Castro, D., Cummings, B.B., Webster, R.I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H.M., Thomas, N.H., Foulds, N.C., Illingworth, M.A., Ellard, S., McLean, C.A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S.T., Kamsteeg, E.J., Hoffman, E.P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K.N., Clarke, N.F., Lek, M., Beggs, A.H., Bonnemann, C.G., MacArthur, D.G., Granzier, H., Davis, M.R., and Laing, N.G.

Abstract

Contains fulltext : 196367.pdf (Publisher’s version ) (Open Access), OBJECTIVE: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively parallel sequencing we identified 30 patients from 27 families with 2 pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. We then undertook a detailed analysis of the clinical, histopathological and imaging features of these patients. RESULTS: All patients had prenatal or early onset hypotonia and/or congenital contractures. None had ophthalmoplegia. Scoliosis and respiratory insufficiency typically developed early and progressed rapidly, whereas limb weakness was often slowly progressive, and usually did not prevent independent walking. Cardiac involvement was present in 46% of patients. Relatives of 2 patients had dilated cardiomyopathy. Creatine kinase levels were normal to moderately elevated. Increased fiber size variation, internalized nuclei and cores were common histopathological abnormalities. Cap-like regions, whorled or ring fibers, and mitochondrial accumulations were also observed. Muscle magnetic resonance imaging showed gluteal, hamstring and calf muscle involvement. Western blot analysis showed a near-normal sized titin protein in all samples. The presence of 2 mutations predicted to impact both N2BA and N2B cardiac isoforms appeared to be associated with greatest risk of cardiac involvement. One-third of patients had 1 mutation predicted to impact exons present in fetal skeletal muscle, but not included within the mature skeletal muscle isoform transcript. This strongly suggests developmental isoforms are involved in the pathogenesis of this congenital/early onset disorder. INTERPRETATION: This detailed clinical reference dataset will greatly facilitate diagnostic confirmation and management of patients, and has provided important insights into disease pathogenesis. Ann Neurol 2018;83:1105-1124.

Published
2018

5. Morphoea induced by treatment with interferon beta‐1a.

Author

Peterson, E., Steuer, A., Franco, L., Nolan, M.A., Lo Sicco, K., and Franks, A.G.

Subjects
INTERFERONS, MYASTHENIA gravis, TRANSFORMING growth factors-beta, TYPE I interferons
Abstract

Biological agents such as interferon beta-1a (IFN -1a) influence the development of systemic sclerosis (SSc) in patients with multiple sclerosis (MS).[1] Treatment with type I interferons, such as IFN -1a, may activate shared pathogenic pathways of autoimmunity and promote the development of morphoea. This patient presented 6 years after initiating treatment with IFN -1a for MS, with a 3-year history of asymptomatic hyperpigmented patches on her trunk and extremities. Treatment with a Type I IFN may induce a shift in Th2 cells, promoting skin sclerosis.[1] Our patient developed morphoea lesions 3 years after initiating treatment with IFN . [Extracted from the article]

Published
2020
Full Text
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6. Inter-regional Migration: The UK experience

Author

Biswas, T., McHardy, J., and Nolan, M.A.

Abstract

This paper looks at the scenario of intra-UK migration amongst its four regions. The level of intra-UK migration is significant and is increasing over time. Using several measures of the balance in migration we observe that, broadly speaking, the balance is improving. We also examine the impact of changes in the regional per capita GDPs and unemployment levels on regional migration using panel analysis. Several authors find these to be significant factors in international migration. However, it seems that neither regional per capita GDP nor the unemployment level has a significant effect on regional migration in the UK (although the regression coefficients have the correct signs). In the case of regional migration in the UK, it is other characteristics of the source and destination regions which appear to matter most. \ud

Published
2009

9. Dysembryoplastic neuroepithelial tumors in childhood

Author

Nolan, M.A., Sakuta, R., Chuang, N., Otsubo, H., Rutka, J.T., Snead, O.C., Hawkins, C.E., and Weiss, S.K.

Abstract

Dysembryoplastic neuroepithelial tumors (DNTs) are associated with medically intractable epilepsy and a favorable prognosis after surgical resection. The authors describe the clinical, radiologic, and pathologic characteristics and outcomes in children after surgical resection of pathologically confirmed DNT to ascertain prognostic features for seizure recurrence following surgery.

Published
2004

11. Studying lay reactions to Australian anti-terrorism legislation.

Author

Nolan, M.A.

Subjects
*COUNTERTERRORISM, *SOCIAL attitudes, *SOCIAL psychology
Abstract

Even though the ASIO bill is currently stalled in the Senate, Australia has already legislated a number of specific offences and investigative procedures aimed at managing 'the terrorist threat'. Some offences and powers date from Sydney's preparation to host the Sydney Olympics in 2000. Much of the recent legislative initiative follows Security Council Resolution 1373, adopted shortly after 11/9/2001. This resolution binds all UN member states to take extensive steps to address terrorism. This paper discusses theoretical and methodological options for studying lay reactions to Australian anti-terrorism law. A selection of relevant social psychological concepts from the literature on siege mentality, security beliefs, perceptions of crime seriousness, collective emotions, and perceptions of the UN will be briefly surveyed. The effectiveness of a range of possible methodologies will be discussed including the use of longitudinal survey research, scenario-based designed experiments and archival work. The discussion will be structured around the need to explore two effects. The first is, how a legislative response to 'the terrorist threat' impacts upon the individual and collective psychology of Australians. The second is how this impact on individual and collective psychology, in turn, creates expectations of and justifications for a 'tough on terrorism' legislative response. [ABSTRACT FROM AUTHOR]

Published
2003

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