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1. Specific fetal malformations following intrauterine exposure to antiseizure medication

Author

Vajda, F, O'Brien, T, Graham, J, Hitchcock, A, Perucca, P, Lander, C, Eadie, M, Vajda, F, O'Brien, T, Graham, J, Hitchcock, A, Perucca, P, Lander, C, and Eadie, M

Abstract

OBJECTIVE: To investigate in the Australian Pregnancy Register of Antiepileptic Drugs patterns of fetal malformation associated with intrauterine exposure to particular currently available antiseizure medications taken by women with epilepsy. RESULTS: There was statistically significant evidence (P < 0.05) of an increased hazard of fetal malformation associated with exposure to valproate, carbamazepine, topiramate, zonisamide, and with conception after assisted fertilization, but a reduced hazard in the offspring of women who continued to smoke during pregnancy. Valproate exposure was associated with malformations in a wide range of organs and organ systems, carbamazepine and topiramate with hydronephrosis, topiramate also with hypospadias, zonisamide with spina bifida and assisted fertilization with heart and great vessel maldevelopment. CONCLUSIONS: Prenatal valproate exposure appears to interfere with the development of many if not all, fetal tissues. It seems likely that prenatal exposure to carbamazepine and topiramate, and possibly exposure to zonisamide, but also some process related to in vitro fertilization, may more selectively affect the normal development of particular fetal tissues or organs.

Published
2023

3. Ultrasound-Triggered In Situ Photon Emission for Noninvasive Optogenetics

Author

Wenliang Wang, Xiang Wu, Kai Wing Kevin Tang, Ilya Pyatnitskiy, Rayna Taniguchi, Peter Lin, Richard Zhou, Sam Lander C. Capocyan, Guosong Hong, and Huiliang Wang

Subjects
Colloid and Surface Chemistry, General Chemistry, Biochemistry, Catalysis, Article
Abstract

Optogenetics has revolutionized neuroscience understanding by allowing spatiotemporal control over cell-type specific neurons in neural circuits. However, the sluggish development of noninvasive photon delivery in the brain has limited the clinical application of optogenetics. Focused ultrasound (FUS)-derived mechanoluminescence has emerged as a promising tool for in situ photon emission, but there is not yet a biocompatible liquid-phase mechanoluminescence system for spatiotemporal optogenetics. To achieve noninvasive optogenetics with a high temporal resolution and desirable biocompatibility, we have developed liposome (Lipo@IR780/L012) nanoparticles for FUS-triggered mechanoluminescence in brain photon delivery. Synchronized and stable blue light emission was generated in solution under FUS irradiation due to the cascade reactions in liposomes. In vitro tests revealed that Lipo@IR780/L012 could be triggered by FUS for light emission at different stimulation frequencies, resulting in activation of opsin-expressing spiking HEK cells under the FUS irradiation. In vivo optogenetic stimulation further demonstrated that motor cortex neurons could be noninvasively and reversibly activated under the repetitive FUS irradiation after intravenous injection of lipid nanoparticles to achieve limb movements.

Published
2023

5. Ultrasound triggered organic mechanoluminescence materials

Author

Wang, Wenliang, primary, Tasset, Aaron, additional, Pyatnitskiy, Ilya, additional, Mohamed, Heba G., additional, Taniguchi, Rayna, additional, Zhou, Richard, additional, Rana, Manini, additional, Lin, Peter, additional, Capocyan, Sam Lander C., additional, Bellamkonda, Arjun, additional, Chase Sanders, W., additional, and Wang, Huiliang, additional

Published
2022
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6. P1562: CHARACTERIZING IRON OVERLOAD BY AGE IN PATIENTS DIAGNOSED WITH PYRUVATE KINASE DEFICIENCY – A DESCRIPTIVE ANALYSIS FROM THE PEAK REGISTRY

Author

Bianchi, P., primary, Grace, R. F., additional, Vives Corrons, J.-L., additional, Glader, B., additional, Glenthøj, A., additional, Kanno, H., additional, Kuo, K. H., additional, Lander, C., additional, Layton, D. M., additional, Pospíŝilová, D., additional, Viprakasit, V., additional, Williams, J., additional, Yan, Y., additional, McGee, B., additional, and van Beers, E. J., additional

Published
2022
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7. P1542: COMORBIDITIES AND COMPLICATIONS ACROSS GENOTYPES IN ADULT PATIENTS WITH PYRUVATE KINASE DEFICIENCY: ANALYSIS FROM THE PEAK REGISTRY

Author

Glenthøj, A., primary, Grace, R. F., additional, van Beers, E. J., additional, Vives Corrons, J.-L., additional, Glader, B., additional, Kuo, K. H. M., additional, Lander, C., additional, Pospíŝilová, D., additional, Williams, J., additional, Yan, Y., additional, McGee, B., additional, and Bianchi, P., additional

Published
2022
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8. Ultrasound triggered organic mechanoluminescence materials

Author

Wenliang Wang, Aaron Tasset, Ilya Pyatnitskiy, Heba G. Mohamed, Rayna Taniguchi, Richard Zhou, Manini Rana, Peter Lin, Sam Lander C. Capocyan, Arjun Bellamkonda, W. Chase Sanders, and Huiliang Wang

Subjects
Pharmaceutical Science, Humans, Nanotechnology, Article, Ultrasonography
Abstract

Ultrasound induced organic mechanoluminescence materials have become one of the focal topics in wireless light sources since they exhibit high spatiotemporal resolution, biocompatibility and excellent tissue penetration depth. These properties promote great potential in ultrahigh sensitive bioimaging with no background noise and noninvasive nanodevices. Recent advances in chemistry, nanotechnology and biomedical research are revolutionizing ultrasound induced organic mechanoluminescence. Herein, we try to summarize some recent researches in ultrasound induced mechanoluminescence that use various materials design strategies based on the molecular conformational changes and cycloreversion reaction. Practical applications, like noninvasive bioimaging and noninvasive optogenetics, are also presented and prospected.

Published
2022

11. Blood Characteristics and Tissue Histology of Oreochromis niloticus Fed Ipomoea batatas Leaf.

Author

Baldo, Diomerl Edward B., Candelaria, Patricia M., Baleta, Francis N., Baleta, Love Joy P., Navarro, Mylene C., and Plantado, Lander C.

Subjects
SWEET potatoes, NILE tilapia, HISTOLOGY, BLOOD diseases, ERYTHROCYTES, NEUTROPHILS, TISSUES, HISTOPATHOLOGY
Abstract

Clinical hematology and tissue histoarchitecture are prognostic indicators of pathological conditions in fish. Using Oreochromis niloticus, a 12-week feeding experiment assessed the hematology and histopathology of ammonia-exposed tissues of gills, kidney and liver. Four treatments were used in the experiment. Fish in the control group was fed the practical diet (T1), while others received diet supplemented with Ipomoea batatas in powder (T2), hot water extract (T3), and crude extract (T4). Hematological profiling was conducted for 12 weeks. Results indicated significant differences at week 6 in neutrophils and lymphocytes, at week 8 in erythrocytes, lymphocytes, eosinophils, and platelets, and at week 12 in hemoglobin (P<0.05). Liver of T1 and T4 illustrated histoarchitecture at normal limits, while erythrocyte infiltration and vacuolation of hepatocytes were observed in T2 and T3. All groups fed I. batatas-supplemented diets showed beneficial effect on the kidney as evidenced by notable decrease in the melanomacrophages. Gill tissues displayed no prominent signs of improvement against widespread infiltration of inflammatory cells in both primary and secondary lamella. The results of the present study demonstrated that incorporation of crude extracts of I. batatas can boost early enhancement of lymphocyte and neutrophil production and improve ammonia-induced kidney and liver histopathology. [ABSTRACT FROM AUTHOR]

Published
2022
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17. Solar-System-Wide Significance of Mars Polar Science

Author

Smith, Isaac, primary, Calvin, W. M., additional, Smith, D. E., additional, Hansen, C., additional, Diniega, S., additional, McEwen, A., additional, Thomas, N., additional, Banfield, D., additional, Titus, T. N., additional, Becerra, P., additional, Kahre, M., additional, Forget, F., additional, Hecht, M., additional, Byrne, S., additional, Hvidberg, C. S., additional, Hayne, P. O., additional, III, J. W. Head,, additional, Mellon, M., additional, Horgan, B., additional, Mustard, J., additional, Holt, J. W., additional, Howard, A., additional, McCleese, D., additional, Stoker, C., additional, James, P., additional, Putzig, N. E., additional, Whitten, J., additional, Buhler, P., additional, Spiga, A., additional, Crismani, M., additional, Aye, K. M., additional, Portyankina, A., additional, Orosei, R., additional, Bramson, A., additional, Hanley, J., additional, Sori, M., additional, Aharonson, O., additional, Clifford, S., additional, Sizemore, H., additional, Morgan, G., additional, Hartmann, B., additional, Schorghofer, N., additional, Clark, R., additional, Berman, D., additional, Crown, D., additional, Chuang, F., additional, Siegler, M., additional, Dobrea, E. N., additional, Lynch, K., additional, Obbard, R. W., additional, Elmaary, M. R., additional, Fisher, D., additional, Kleinboehl, A., additional, Balme, M., additional, Schmitt, B., additional, Daly, M., additional, Ewing, R. C., additional, Herkenhoff, K. E., additional, Fenton, L., additional, Guzewich, S. D., additional, Koutnik, M., additional, Levy, J., additional, Massey, R., additional, Łosiak, A., additional, Eke, V., additional, Goldsby, D., additional, Cross, A., additional, Hager, T., additional, Piqueux, S., additional, Kereszturi, A., additional, Seelos, K., additional, Wood, S., additional, Hauber, E., additional, Amos, C., additional, Russell, P., additional, Jaumann, R., additional, Michael, G., additional, Conway, S., additional, Khayat, A., additional, Lewis, S., additional, Luizzi, G., additional, Martinez, G., additional, Mesick, K., additional, Montabone, L., additional, Johnsson, A., additional, Pankine, A., additional, Phillips-Lander, C., additional, Read, P., additional, Edgar, L., additional, Zacny, K., additional, McAdam, A., additional, Rutledge, A., additional, Bertrand, T., additional, Widmer, J., additional, Stillman, D., additional, Soto, A., additional, Yoldi, Z., additional, Young, R., additional, Svensson, A., additional, Sam, L., additional, Landis, M., additional, Bhardwaj, A., additional, Chojnacki, M., additional, Kite, E., additional, Thomas, P., additional, Plaut, J., additional, Bapst, J., additional, Milkovich, S., additional, Whiteway, J., additional, Moores, J., additional, Rezza, C., additional, Karimova, R., additional, Mishev, I., additional, Brenen, A. Van, additional, Acharya, P., additional, Chesal, J., additional, Pascuzzo, A., additional, Vos, E., additional, Osinski, G., additional, Andres, C., additional, Neisch, C., additional, Hibbard, S., additional, Sinha, P., additional, Knightly, J. P., additional, Cartwright, S., additional, Kounaves, S., additional, Orgel, C., additional, Skidmore, M., additional, MacGregor, J., additional, Staehle, R., additional, Rabassa, J., additional, Gallagher, C., additional, Coronato, A., additional, Galofre, A. G., additional, Wilson, J., additional, McKeown, L., additional, Oliveira, N., additional, Fawdon, P., additional, Gayathri, U., additional, Stuurman, C., additional, Herny, C., additional, Butcher, F., additional, Bernardini, F., additional, Perry, M., additional, Hu, R., additional, Mukherjee, S., additional, Chevrier, V., additional, Banks, M. E., additional, Meng, T., additional, Johnson, P. A., additional, Tober, B., additional, Johnson, J. C., additional, Ulamsec, S., additional, Echaurren, J. C., additional, Khuller, A., additional, Dinwiddie, C., additional, Adeli, S., additional, Henderson, B. L., additional, Lozano, L. R., additional, Lalich, D., additional, Rivera-Valentín, E., additional, Nerozzi, S., additional, Petersen, E., additional, Foss, F., additional, Lorenz, R., additional, Eigenbrode, J., additional, Day, M., additional, Brown, A., additional, Pajola, M., additional, Karatekin, Ö., additional, Lucchetti, A., additional, Cesar, C., additional, Newman, C., additional, Cave, T. G., additional, Tamppari, L., additional, Mischna, M., additional, Patel, M., additional, Streeter, P., additional, Stern, J. C., additional, and Dundas, C. M., additional

Published
2021
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18. Unlocking the Climate Record Stored within Mars’ Polar Layered Deposits

Author

Smith, Isaac, primary, Hayne, Paul O., additional, Byrne, Shane, additional, Becerra, Patricio, additional, Kahre, Melinda, additional, Calvin, Wendy, additional, Hvidberg, Christine, additional, Milkovich, Sarah, additional, Buhler, Peter, additional, Landis, Margaret, additional, Horgan, Briony, additional, Kleinböhl, Armin, additional, Perry, Matthew R., additional, Obbard, Rachel, additional, Stern, Jennifer, additional, Piqueux, Sylvain, additional, Thomas, Nicolas, additional, Zacny, Kris, additional, Carter, Lynn, additional, Edgar, Lauren, additional, Emmett, Jeremy, additional, Navarro, Thomas, additional, Hanley, Jennifer, additional, Koutnik, Michelle, additional, Putzig, Nathaniel, additional, Henderson, Bryana L., additional, Holt, John W., additional, Ehlmann, Bethany, additional, Parra, Sergio, additional, Lalich, Daniel, additional, Hansen, Candice, additional, Hecht, Michael, additional, Banfield, Don, additional, Herkenhoff, Ken, additional, Paige, David A., additional, Skidmore, Mark, additional, Staehle, Robert L., additional, Siegler, Matthew, additional, Soto, A., additional, Foss, F., additional, Lewis, S., additional, Whitten, J., additional, Vos, E., additional, Johnson, P. A., additional, Johnson, J. C., additional, Gallagher, C., additional, Brown, A., additional, Bertrand, T., additional, Phillips-Lander, C., additional, Oliveira, N., additional, Kite, E., additional, Thorsteinsson, T., additional, Tamppari, L., additional, Hauber, E., additional, Fanara, L., additional, Oberst, J., additional, Ulamec, S., additional, Cartwright, S., additional, Harrison, T., additional, Hibbard, S., additional, Portyankina, A., additional, and Titus, T. N., additional

Published
2021
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23. EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process

Author

Bergin, P. S., Beghi, E., Sadleir, L. G., Brockington, A., Tripathi, M., Richardson, M. P., Bianchi, E., Srivastava, K., Jayabal, J., Legros, B., Ossemann, M., Mcgrath, N., Verrotti, A., Tan, H. J., Beretta, S., Frith, R., Iniesta, I., Whitham, E., Wanigasinghe, J., Ezeala-Adikaibe, B., Striano, P., Rosemergy, I., Walker, E. B., Alkhidze, M., Rodriguez-Leyva, I., Ramirez Gonzalez, J. A., D'Souza, W. J., Calle, A., Palacios, C., Cairns, A., Carney, P., Craig, D., Gill, D., Gupta, S., Lander, C., Laue-Gizzi, H., Hitchens, N., Kiley, M., Lawn, N., Reyneke, E., Riney, K., Tan, M., Thieban, M., Wong, C., van Rijckevorsel, G., Ferrari Strang, A. G., Gifoni, A., Helio, L., Monnerat, B., Brna, P., Donner, E., Jacques, S., Jette, N., Mclachlan, R., Mohamed, I., Tran, T. P. Y., Bo, X., Fan, S., Guang, Y., Li, M., Wang, K., Zhang, S., Ladino, L., Christensen, J., Kӧlmel, M. S., Nikanorova, M., Uusitalo, A., Vieira, P., Auvin, S., Ediberidze, T., Gogatishvili, N., Jishkariani, T., Dennig, D., Grimmer, A., Michaelis, R., Schubert-Bast, S., Stephani, C., Stodieck, S., Vollbrandt, M., Zellner, A., Zafeiriou, D., Fogarasi, A., Halasz, P., Chaurasia, R. N., Jain, S., Nair, R., Passi, P., Rajadhyaksha, S., Sattaluri, S. J., Shah, H., Udani, V., Costello, D., Aguglia, U., Bartocci, A., Benna, P., Ferlazzo, E., Laino, D., Spalice, A., Zanchi, C., Ali, A., Lim, K. S., Ramirez, A., Anderson, N., Barber, A., Cariga, P., Cleland, J., Child, N., Davis, S., Dayal, V., Dickson, C., Doran, J., Duncan, R., Giri, P., Herd, M., Hutchinson, D., Jones, B., Kao, J., Kilfoyle, D., Mottershead, J., Muir, C., Nolan, M., Pereira, J., Ranta, A., Sadani, S., Simpson, M., Spooner, C., Timmings, P., Walker, E., Wei, D., Willoughby, E., Wong, E., Wu, T., Olusola, T., Mahmud, H., Mogul, Z., Espinoza, J., Vizarreta, J. H., Baeta, E. M., Teotonio, R., Jocic-Jakubi, B., Lukic, S., Korosec, M., Zgur, T., Eguilaz, M. G., Asztely, F., Sithinamsuwan, P., Anderson, J., Auce, P., Desurkar, A., Hamandi, K., Kelso, A., Sanchez, V., Sidra, A., Smith, P., Wehner, T., Winston, G., Andrade, E., Bensalem-Owen, M., Boudreau, M., Caller, T., Chapman, K., Chari, G., Davis, K., Droker, B., El-Hagrassy, M., Eliashiv, D., Eze, C., Heck, C., Kabir, A., Kolesnik, D., Lam, A., Lopez, J., Maamoon, T., Cohen, J. M., Maganti, R., Nwankwo, C., Park, K., Proteasa, S., Sandok, E., Seinfield, S., Toub, J., Wirrell, E., Arbildi, M., Thien, T. T., UCL - SSS/IONS/NEUR - Clinical Neuroscience, and UCL - (MGD) Service de neurologie

Subjects
0301 basic medicine, medicine.medical_specialty, Validation study, education, Alternative medicine, Multicenter collaboration, Diagnostic accuracy, Accreditation, 03 medical and health sciences, Epilepsy, Clinical trials, 0302 clinical medicine, Clinical Trials, Multicentre Collaboration, medicine, health care economics and organizations, Kappa value, business.industry, medicine.disease, Invited Original Research, Clinical trial, 030104 developmental biology, Neurology, Family medicine, Etiology, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study, Biomedical engineering
Abstract

Objective\ud \ud EpiNet was established to encourage epilepsy research. EpiNet is used for multicenter cohort studies and investigator‐led trials. Physicians must be accredited to recruit patients into trials. Here, we describe the accreditation process for the EpiNet‐First trials.\ud Methods\ud \ud Physicians with an interest in epilepsy were invited to assess 30 case scenarios to determine the following: whether patients have epilepsy; the nature of the seizures (generalized, focal); and the etiology. Information was presented in two steps for 23 cases. The EpiNet steering committee determined that 21 cases had epilepsy. The steering committee determined by consensus which responses were acceptable for each case. We chose a subset of 18 cases to accredit investigators for the EpiNet‐First trials. We initially focused on 12 cases; to be accredited, investigators could not diagnose epilepsy in any case that the steering committee determined did not have epilepsy. If investigators were not accredited after assessing 12 cases, 6 further cases were considered. When assessing the 18 cases, investigators could be accredited if they diagnosed one of six nonepilepsy patients as having possible epilepsy but could make no other false‐positive errors and could make only one error regarding seizure classification.\ud Results\ud \ud Between December 2013 and December 2014, 189 physicians assessed the 30 cases. Agreement with the steering committee regarding the diagnosis at step 1 ranged from 47% to 100%, and improved when information regarding tests was provided at step 2. One hundred five of the 189 physicians (55%) were accredited for the EpiNet‐First trials. The kappa value for diagnosis of epilepsy across all 30 cases for accredited physicians was 0.70.\ud Significance\ud \ud We have established criteria for accrediting physicians using EpiNet. New investigators can be accredited by assessing 18 case scenarios. We encourage physicians with an interest in epilepsy to become EpiNet‐accredited and to participate in these investigator‐led clinical trials.

Published
2017

27. A decision tree to determine fitness to drive in epilepsy: Results of a pilot in two Australian states

Author

Somerville, ER, Somerville, E, Black, A, Lander, C, Jones, D, Beran, R, Gordon, J, Burrow, J, Archer, J, Dunne, J, Cook, M, Berkovic, S, Harvey, S, Somerville, ER, Somerville, E, Black, A, Lander, C, Jones, D, Beran, R, Gordon, J, Burrow, J, Archer, J, Dunne, J, Cook, M, Berkovic, S, and Harvey, S

Abstract

OBJECTIVE: Certification by treating physicians of fitness to drive in people with epilepsy creates a conflict of interest that may result in unsafe decisions, damage the doctor-patient relationship, expose the physician to legal liability and prevent optimal treatment. Ideally, the treating physician should provide objective clinical information to the driver licensing authority (DLA), which then determines fitness or otherwise. However, DLAs in Australia do not employ medical staff and the national standards are complex. Fitness is determined by the treating physician, according to published national standards. The purpose of this study was to determine the feasibility of using a decision tree to determine fitness, according to the Australian standards. METHODS: A decision tree was constructed to use clinical data to determine whether a patient met the national standard to drive a private motorcar, failed to meet it or required further assessment. A form was designed to collect the necessary clinical data from the treating physician. A computerized version of the decision tree was then used in a pilot in two Australian states in parallel with the existing certification system. Four hundred thirty-nine drivers with declared epilepsy and their treating physicians were invited to participate when their annual driver licence review was due. RESULTS: Two hundred fifty-three (58%) forms were returned. All patients were considered fit to drive by their physician. Seventy-six percent had not had a seizure for over two years. In 88.1%, there was agreement between the decision tree and treating physician, with 3.6% identified by the decision tree as requiring review. Although considered fit by their physician, 6.3% did not meet the national standard to drive. SIGNIFICANCE: The decision tree model is a practical alternative to fitness certification by treating physicians. This Australian pilot can serve as a model for applying objective standards to driving assessments in ot

Published
2019

29. Foreign direct investment in the Russian agricultural sector

Author

Lander, C, Kuns, B, Clark, G, Visser, O, and Pallot, J

Subjects
Economics, Politics, Business, Agriculture, Human geography
Abstract

This thesis investigates the experiences of foreign direct investment (FDI) in the agricultural sector of the Russian Federation. The focus is on the form of FDI, and how each investor responds, and adapts, to the Russian operational environment. This is achieved through extensive qualitative, and multiple methods research on three manifestations of FDI: corporate, privately-funded investment; corporate, publically-funded investment; and smaller, individual private investment. Of interest are the Russia-specific constraints that may be largely underprepared for by foreign investors, and unexpected events that occur in the Russian space that hamper the efforts of investors. This thesis, thus, informs the reader of the variable nature of the Russian agricultural sphere, and the problems that exist within its boundaries, and presents the stories of some of the foreign investors that have tried to penetrate its market, mostly since the collapse of the Soviet Union in 1991. The thesis consists of four papers that have either been published, or submitted for publication, in academic journals, and utilises fieldwork that was conducted between 2013 and 2014. This thesis finds that all of the foreign investors studied have experienced – in certain aspects – failure on the Russian frontier, though there have also been certain successes. It seems that financial success is dictated by the business model of each investor; those who are afforded longer time horizons, more time to adapt on the frontier, and a source of funds that does not place short-term pressure on the business, are more likely to succeed. The Russian operating environment is unique, peculiar, and unpredictable, with a tendency to produce substantial obstacles that, for investors, are difficult to overcome; for agricultural FDI to avoid these struggles, these environmental conditions need to be anticipated and prepared for, with clear strategies painstakingly thought through before any venture physically begins on Russian soil.

Published
2018

44. The spectrum of SCN1A-related infantile epileptic encephalopathies.

Author

Crow Y., Seltzer W.K., Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., Scheffer I.E., Abbott K., Andrews I., Appleton B., Bleasel A., Buchanan N., Burke C., Bye A., Camfield C., Camfield P., Chow G., Collins K., Cook M., Cross J.H., D'Agostino M.D., Delatycki M., Dunkley C., Fawke J., Ferrie C., Geraghty M., Graham G., Grattan-Smith P., Hallam E., Hamiwka L., Harding A., Harvey S., Hayman M., Hufton I., Humphries P., Jacob P., Jacquemard R., Jamison D., Jardine P., Jones S., Keene D., Kelley K., Ketteridge D., Kim A., Kivity S., Kneebone C., Kornberg A., Lamb C., Lander C., Lerman-Sagie T., Lev D., Leventer R., Mackay M., Malone S., Manson J., McLellan A., Moore P., Nagarajan L., Nash M., Nikanorova M., Nordli D., O'Regan M., Ouvrier R., Patel J., Pridmore C., Ramesh V., Reutens D., Rowe P., Shield L., Shillito P., Smith L., Spooner C., Wallace G., Watemberg N., Whitehouse W., Wirrell E., Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., Jones J.G., Crow Y., Seltzer W.K., Gardner A., Sutherland G., Berkovic S.F., Mulley J.C., Scheffer I.E., Abbott K., Andrews I., Appleton B., Bleasel A., Buchanan N., Burke C., Bye A., Camfield C., Camfield P., Chow G., Collins K., Cook M., Cross J.H., D'Agostino M.D., Delatycki M., Dunkley C., Fawke J., Ferrie C., Geraghty M., Graham G., Grattan-Smith P., Hallam E., Hamiwka L., Harding A., Harvey S., Hayman M., Hufton I., Humphries P., Jacob P., Jacquemard R., Jamison D., Jardine P., Jones S., Keene D., Kelley K., Ketteridge D., Kim A., Kivity S., Kneebone C., Kornberg A., Lamb C., Lander C., Lerman-Sagie T., Lev D., Leventer R., Mackay M., Malone S., Manson J., McLellan A., Moore P., Nagarajan L., Nash M., Nikanorova M., Nordli D., O'Regan M., Ouvrier R., Patel J., Pridmore C., Ramesh V., Reutens D., Rowe P., Shield L., Shillito P., Smith L., Spooner C., Wallace G., Watemberg N., Whitehouse W., Wirrell E., Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., Sadleir L.G., Andermann E., Gill D., Farrell K., Connolly M., Stanley T., Harbord M., Andermann F., Wang J., Batish S.D., and Jones J.G.

Abstract

The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by denaturing high performance liquid chromatography and sequencing. All patients had seizure onset within the first 2 years of life. A higher proportion of mutations were identified in patients with SMEI (52/66; 79%) compared to patients with SMEB (25/36; 69%). By studying a broader spectrum of infantile epileptic encephalopathies, we identified mutations in other syndromes including cryptogenic generalized epilepsy (24%) and cryptogenic focal epilepsy (22%). Within the latter group, a distinctive subgroup designated as severe infantile multifocal epilepsy had SCN1A mutations in three of five cases. This phenotype is characterized by early onset multifocal seizures and later cognitive decline. Knowledge of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders. © The Author (2007). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.

Published
2012

47. Use and monitoring of low dose rituximab in myasthenia gravis

Author

Blum, S., primary, Gillis, D., additional, Brown, H., additional, Boyle, R., additional, Henderson, R., additional, Heyworth-Smith, D., additional, Hogan, P., additional, Kubler, P., additional, Lander, C., additional, Limberg, N., additional, Pillans, P., additional, Prain, K., additional, Staples, C., additional, Walsh, M., additional, McCombe, P., additional, and Wong, R., additional

Published
2010
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