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19 results on '"McCoy, Blathnaid"'

6. Intra-operative cortical motor mapping using subdural grid electrodes in children undergoing epilepsy surgery evaluation and comparison with the conventional extra-operative motor mapping

Author

Jain, Puneet, Whitney, Robyn, Strantzas, Samuel, McCoy, Blathnaid, Ochi, Ayako, Otsubo, Hiroshi, Snead, O. Carter, III, Weiss, Shelly, Donner, Elizabeth, Pang, Elizabeth, Sharma, Rohit, Viljoen, Amrita, Keller, Anne, Drake, James M., Rutka, James T., and Go, Cristina

Published
2018
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11. Intravenous ketamine for the treatment of refractory status epilepticus: A retrospective multicenter study

Author

Gaspard, Nicolas, Foreman, Brandon, Judd, Lilith M., Brenton, James N., Nathan, Barnett R., McCoy, Blathnaid M., Al-Otaibi, Ali, Kilbride, Ronan, Fernández, Ivan Sánchez, Mendoza, Lucy, Samuel, Sophie, Zakaria, Asma, Kalamangalam, Giridhar P., Legros, Benjamin, Szaflarski, Jerzy P., Loddenkemper, Tobias, Hahn, Cecil D., Goodkin, Howard P., Claassen, Jan, Hirsch, Lawrence J., and LaRoche, Suzette M.

Published
2013
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13. The role of surgery in refractory epilepsy secondary to polymicrogyria in the pediatric population

Author

Jalloh, Ibrahim, primary, Cho, Newton, additional, Nga, Vincent D.W., additional, Whitney, Robyn, additional, Jain, Puneet, additional, Al-Mehmadi, Sameer, additional, Yau, Ivanna, additional, Okura, Hidehiro, additional, Widjaja, Elysa, additional, Otsubo, Hiroshi, additional, Ochi, Ayako, additional, Donner, Elizabeth, additional, McCoy, Blathnaid, additional, Drake, James, additional, Go, Cristina, additional, and Rutka, James T., additional

Published
2018
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14. Risk factors for surgical site infection after intracranial electroencephalography monitoring for epilepsy in the pediatric population

Author

Meng, Ying, primary, Voisin, Mathew R., additional, Suppiah, Suganth, additional, Merali, Zamir, additional, Moghaddamjou, Ali, additional, Alotaibi, Naif M., additional, Manicat-Emo, Arbelle, additional, Weiss, Shelly, additional, Go, Cristina, additional, McCoy, Blathnaid, additional, Donner, Elizabeth J., additional, and Rutka, James T., additional

Published
2018
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15. T22. Intra-operative motor mapping using subdural grid electrodes in children undergoing invasive EEG monitoring

Author

Jain, Puneet, primary, Whitney, Robyn, additional, McCoy, Blathnaid, additional, Ochi, Ayako, additional, Otsubo, Hiroshi, additional, Snead, Carter, additional, Weiss, Shelly, additional, Donner, Elizabeth, additional, Strantzas, Samuel, additional, Pang, Elizabeth, additional, Sharma, Rohit, additional, Viljoen, Amrita, additional, and Go, Cristina, additional

Published
2018
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18. A novel locus for episodic ataxia:UBR4 the likely candidate

Author

Conroy, Judith, primary, McGettigan, Paul, additional, Murphy, Raymond, additional, Webb, David, additional, Murphy, Sinéad M, additional, McCoy, Blathnaid, additional, Albertyn, Christine, additional, McCreary, Dara, additional, McDonagh, Cara, additional, Walsh, Orla, additional, Lynch, SallyAnn, additional, and Ennis, Sean, additional

Published
2013
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19. A novel locus for episodic ataxia:UBR4 the likely candidate.

Author

Conroy, Judith, McGettigan, Paul, Murphy, Raymond, Webb, David, Murphy, Sinéad M, McCoy, Blathnaid, Albertyn, Christine, McCreary, Dara, McDonagh, Cara, Walsh, Orla, Lynch, SallyAnn, and Ennis, Sean

Subjects
ATAXIA, NUCLEOTIDE sequence, UBIQUITIN ligases, CALMODULIN, CYTOPLASM
Abstract

Episodic ataxias (EAs) are rare neurological channelopathies that are characterized by spells of imbalance and a lack of co-ordination. There are seven clinically recognized EAs and multiple isolated cases. Five disease-causing genes have been identified to date. We describe a novel form of autosomal dominant EA in a large three-generation Irish family. This form of EA presents in early childhood with periods of unsteadiness generalized weakness and slurred speech during an attack, which may be triggered by physical tiredness or stress. Linkage analysis undertaken in 13 related individuals identified a single disease locus (1p36.13-p34.3) with a LOD score of 3.29. Exome sequencing was performed. Following data analysis, which included presence/absence within the linkage peak, two candidate variants were identified. These are located in the HSPG2 and UBR4 genes. UBR4 is an ubiquitin ligase protein that is known to interact with calmodulin, a Ca2+ protein, in the cytoplasm. It also co-localizes with ITPR1 a calcium release channel that is a major determinant of mammal co-ordination. Although UBR4 is not an ion channel gene, the potential for disrupted Ca2+ control within neuronal cells highlights its potential for a role in this form of EA. [ABSTRACT FROM AUTHOR]

Published
2014
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