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121 results on '"Tassinari, C.A."'

13. Video games are exciting: a European study of videogame‐induced seizures and epilepsy

Author

KASTELEIJN‐NOLST TRENITE, D.G., MARTINS DA SILVA, A., RICCI, S., RUBBOLI, G., TASSINARI, C.A., LOPES, J., BETTENCOURT, M., OOSTING, J., and SEGERS, J.P.

Subjects
human activities
Abstract

Epileptic Disord. 2002 Jun;4(2):121-8. Video games are exciting: a European study of video game-induced seizures and epilepsy. Kasteleijn-Nolst Trenité DG, Martins da Silva A, Ricci S, Rubboli G, Tassinari CA, Lopes J, Bettencourt M, Oosting J, Segers JP. Department of Neurology, Medical Centre Alkmaar, PO Box 501, 1800 AM, The Netherlands. dkasteleijn@planet.nl Abstract BACKGROUND: Video game seizures have been reported in photosensitive and non-photosensitive patients with epilepsy. The game Super Mario World, has led to many cases of first seizures. We examined whether this game was indeed more provocative than other programs and whether playing the game added to this effect. METHODS: We prospectively investigated 352 patients in four European cities, using a standard protocol including testing of a variety of visual stimuli. We correlated historical data on provocative factors in daily life with electroencephalographic laboratory findings. RESULTS: The video game, Super Mario World proved more epileptogenic than standard TV programs and as provocative as programs with flashing lights and patterns. Most striking was the fact that video game-viewing and-playing on the 50 and 100 Hz TV was significantly more provocative than viewing the standard program (P < 0.001, P < 0.05 respectively). Playing the video game Mario World on a 50 Hz TV, appeared to be significantly more provocative than playing this game on the 100 Hz TV (P < 0.001). Of 163 patients with a history of TV-, VG- or CG-seizures, 85% of them showed epileptiform discharges in response to photic stimulation, 44% to patterns, 59% to 50 Hz TV and 29% to 100 Hz TV. CONCLUSIONS: Children and adolescents with a history of video game seizures are, in the vast majority, photosensitive and should be investigated with standardised photic stimulation. Games and programs with bright background or flashing images are specifically provocative. Playing a video game on a 100 Hz TV is less provocative [published with videosequences]. PMID: 12105074 [PubMed - indexed for MEDLINE]

Published
2002

17. SCARB2mutations in progressive myoclonus epilepsy (PME) without renal failure

Author

Dibbens, L.M., primary, Michelucci, R., additional, Gambardella, A., additional, Andermann, F., additional, Rubboli, G., additional, Bayly, M.A., additional, Joensuu, T., additional, Vears, D.F., additional, Franceschetti, S., additional, Canafoglia, L., additional, Wallace, R., additional, Bassuk, A.G., additional, Power, D.A., additional, Tassinari, C.A., additional, Andermann, E., additional, Lehesjoki, A.E., additional, and Berkovic, S.F., additional

Published
2009
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21. Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5 , in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia

Author

Nobile, C, primary, Hinzmann, B, additional, Scannapieco, P, additional, Siebert, R, additional, Zimbello, R, additional, Perez-Tur, J, additional, Sarafidou, T, additional, Moschonas, N.K, additional, French, L, additional, Deloukas, P, additional, Ciccodicola, A, additional, Gesk, S, additional, Poza, J.J, additional, Nigro, C.Lo, additional, Seri, M, additional, Schlegelberger, B, additional, Rosenthal, A, additional, Valle, G, additional, de Munain, A.Lopez, additional, Tassinari, C.A, additional, and Michelucci, R, additional

Published
2002
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42. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

Author

Dibbens, L.M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M.A., Joensuu, T., Vears, D.F., Franceschetti, S., Canafoglia, L., Wallace, R., Bassuk, A.G., Power, D.A., Tassinari, C.A., Andermann, E., Lehesjoki, A.E., and Berkovic, S.F.

Abstract

Objective Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF). We hypothesized that mutations in SCARB2 might account for unsolved cases of progressive myoclonus epilepsy (PME) without renal impairment, especially those resembling Unverricht-Lundborg disease (ULD). Additionally, we searched for mutations in the PRICKLE1 gene, newly recognized as a cause of PME mimicking ULD. Methods We reviewed cases of PME referred for diagnosis over two decades in which a molecular diagnosis had not been reached. Patients were classified according to age of onset, clinical pattern, and associated neurological signs into 'ULD-like' and 'not ULD-like.' After exclusion of mutations in cystatin B (CSTB), DNA was examined for sequence variation in SCARB2 and PRICKLE1. Results Of 71 cases evaluated, 41 were 'ULD-like' and five had SCARB2 mutations. None of 30 'not ULD-like' cases were positive. The five patients with SCARB2 mutations had onset between 14 and 26 years of age, with no evidence of renal failure during 5.5 to 15 years of follow-up; four were followed until death. One living patient had slight proteinuria. A subset of 25 cases were sequenced for PRICKLE1 and no mutations were found. Interpretation Mutations in SCARB2 are an important cause of hitherto unsolved cases of PME resembling ULD at onset. SCARB2 should be evaluated even in the absence of renal involvement. Onset is in teenage or young adult life. Molecular diagnosis is important for counseling the patient and family, particularly as the prognosis is worse than classical ULD. Ann Neurol 2009;66:532-536 [ABSTRACT FROM AUTHOR]

Published
2009
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44. Eye closure seizures

Author

Gobbi, G., primary, Parmeggiani, A., additional, Santucci, M., additional, Santanelli, P., additional, Sosa, S., additional, Cuello, L., additional, Salvi, F., additional, Rubboli, G., additional, and Tassinari, C.A., additional

Published
1990
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45. Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu.

Author

Salvi, F., Scaglione, C., Michelucci, R., Linke, R.P., L. Obici, R.P., Ravani, A., Rimessi, P., Ferlini, A., Meletti, S., Cavallaro, T., Tassinari, C.A., and Martinelli, P.

Subjects
POLYNEUROPATHIES, GENETIC mutation, NEUROPATHY, HUMAN genetics, PROTEIN folding, PROTEIN conformation
Abstract

Studies atypical familial motor neuropathy in patients with the mutant transthyretin gene (TTR) Ile68Leu. Sample medical cases on the issue; Familial occurrence of axonal and slowly progressive polyneuropathy; Implications on studies of protein folding disorders.

Published
2003
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46. Rhythmic teeth grinding induced by temporal lobe seizures

Author

Meletti, S., Cantalupo, G., Volpi, L., Rubboli, G., Magaudda, A., and Tassinari, C.A.

Abstract

The authors report the clinical and polygraphic features of rhythmic teeth grinding observed in a patient as the predominant symptom related to temporal lobe seizures during sleep and wakefulness. This observation demonstrates that exceptionally a teeth-grinding event can be not only a parasomnia (sleep bruxism) but also an epileptic-related motor event. Electromyographic and autonomic features of seizure-related teeth grinding support the interpretation of this motor phenomenon as a particular form of masticatory activity.

Published
2004

48. Symptomatic unruptured capillary telangiectasia of the brain stem: report of three cases and review of the literature

Author

Scaglione, C., Salvi, F., Riguzzi, P., Vergelli, M., Tassinari, C.A., and Mascalchi, M.

Abstract

Three young patients with transient or intermittent focal neurological signs suggesting brain stem involvement are described, in whom high field MRI showed focal areas of hyperintensity in T2 weighted spin echo images, hypointensity in T2* weighted gradient echo images, and enhancement in postcontrast T1 weighted images consistent with unruptured capillary telangiectasia of the brain stem. The first patient was a 28 year old woman who complained of recurrent left ear tinnitus, exacerbated during the menstrual period; MRI demonstrated that the vascular anomaly involved the left acoustic pathway. The second patient was a 30 year old woman who had three episodes of paroxysmal left lip movement 4 weeks after child delivery; MRI showed capillary telangiectasia in the right corticonuclear pathway. The third patient, a 36 year old man, had a transient right Bell's palsy; MRI disclosed two circumscribed areas consistent with capillary telangiectasia in the left corticospinal tract and medial longitudinal fasciculus. Steroid receptors in the telangiectatic vessels walls might account for the recurrent and transient course seen in our two female patients. Awareness of the MRI features of capillary telangiectasia may help in defining the real incidence, clinical correlation, and the risk of haemorrhagic complications of these vascular malformations.

Published
2001

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