Results 11 to 20 of about 932,591 (309)

Genetic generalized epilepsies [PDF]

Epilepsia, 2018
SummaryThe genetic generalized epilepsies (GGEs) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute. Pathogenic variants of SLC2A1 leading to autosomal‐dominant GLUT1 deficiency account for up to 1% of cases, increasing to
Mullen, Saul A., Berkovic, Samuel F., De Jonghe, Peter, et al.   +3 more
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Auras in generalized epilepsy [PDF]

Neurology, 2014
We studied the frequency of auras in generalized epilepsy (GE) using a detailed semistructured diagnostic interview.In this cross-sectional study, participants with GE were drawn from the Epilepsy Phenome/Genome Project (EPGP). Responses to the standardized diagnostic interview regarding tonic-clonic (grand mal) seizures were then examined.
Dugan, Patricia, Carlson, Chad, Bluvstein, Judith, Chong, Derek J, Friedman, Daniel, Kirsch, Heidi E   +5 more
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Inherited Epilepsies

Bezmiâlem Science, 2020
Mutations in genes encoding the formation of ion channels may cause epileptic syndromes. These epileptic syndromes are generally divided into generalized and partial epilepsies.
Halil Aziz VELİOĞLU, Muhammed Yunus BEKTAY   +1 more
doaj   +1 more source

Role of circulating miR 194-5p, miR 106b, and miR 146a as potential biomarkers for epilepsy: a case-control study

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2020
Background Epilepsy is a chronic neurological disease. A suitable biomarker for epilepsy diagnosis remains lacking. MicroRNAs (miRNAs) were pronounced as promising biomarkers for epileptogenesis. Objectives To analyze the expression levels of miR 194-5p,
Mervat Moustafa, Noha T. Abokrysha, Nermeen A. Eldesoukey, Dalia Gamil Amin, Nesma Mounir, Dalia M. Labib   +5 more
doaj   +1 more source

A Classification Model of EEG Signals Based on RNN-LSTM for Diagnosing Focal and Generalized Epilepsy

Sensors, 2022
Epilepsy is a chronic neurological disorder caused by abnormal neuronal activity that is diagnosed visually by analyzing electroencephalography (EEG) signals.
Tahereh Najafi, Rosmina Jaafar, Rabani Remli, Wan Asyraf Wan Zaidi   +3 more
doaj   +1 more source

The Coexistence of Idiopathic Generalized Epilepsy and Partial Epilepsy [PDF]

Epilepsia, 2004
Summary:  Purpose: To describe the clinical, EEG, and imaging data of a series of patients with features of both idiopathic generalized epilepsy (IGE) and partial epilepsy. Methods: A computerized database of all patients attending the regional epilepsy clinic was used to identify all patients with IGE.
Andrew, Nicolson, David W, Chadwick, David F, Smith   +2 more
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Role of neurotrophins and neuropeptides in Genetic Absence Epilepsy Rats from Strasbourg (GAERS) : a model for human generalized absence seizures [PDF]

, 2010
Several studies have shown that neurotrophins and neuropeptides contribute to epileptogenesis but their impact on idiopathic generalized epilepsies is not yet elucidated.
Landweer, Svenja
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Analysis of the effects of different provocative methods on bioelectrical brain activity in patients with epilepsy

Neurologijos seminarai, 2019
ntroduction. The sensitivity of EEG is increased by performing standard provocative tests. The effects of additional cognitive tasks on bioelectrical brain activity aren’t widely studied.
G. Seniut , D. Streckytė , R. Mameniškienė   +2 more
doaj   +1 more source

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

Epilepsia Open, 2023
Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation.
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp   +19 more
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CHD2 variants are a risk factor for photosensitivity in epilepsy. [PDF]

, 2015
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2
Cantonetti, L., Muhle, H., Thiele, H., Lench, N, Krishna Chinthapalli, V, Krause, R, Sadleir, L. G., Gaudio, L.D., Moller, R. S., EURO Epinomics CoGIE Consortium, Afrikanova, T, Jocic-Jakubi, B., Capovilla, G., Myers, C., Myers, C. T., Sadleir, LG, Muhle, H, Nürnberg, P, Helbig, I., Parisi, P., EuroEPINOMICS CoGIE Consortium,, Pendziwiat, M., Stephani, U., Coppola, A., Kasteleijn-Nolst Trenité, D.G.A., Myers, CT, Chinthapalli, V. K., Krishna Chinthapalli, V., Stephani, U, Del Gaudio, L., de Kovel, C.G.F., Scheffer, I.E., De Kovel, CGF, Chinthapalli, VK, Veggiotti, P., Lehesjoki, AE, Jacmin, M., Drury, S., Piccioli, M., Berkovic, S. F., Esguerra, C., Trenite, D., Martins, T.G., Chinthapalli, V., Thiele, H, Kasteleijn-Nolst Trenité, DG, Lehesjoki, A., Crawford, A., Boustred, C., Lerche, H, Moller, R., Galizia, E. C., Ruppert, A. -K., Helbig, I, Schubert, J, Schneider, A. L., Mefford, H.C., Crawford, AD, Schubert, J., Schneider, A.L., Veggotti, P, Esguerra, CV, Striano, S., Ruppert, A., Berkovic, S., Galizia, EC, Cordero-Maldonado, M., Leu, C., Mefford, H. C., Martins, T. G., Palotie, A, Crawford, A. D., Ruppert, A.K., Covanis, A., Sisodiya, S., Ruppert, AK, Cordero-Maldonado, M. L., Møller, RS, Esguerra, C. V., Trenité, D. G. A. K. -N., Schneider, A., Coppola, A, Cantonetti, L, Leu, C, Del Gaudio, L, Cordero-Maldonado, ML, De Kovel, C. G. F., Berkovic, SF, Mullen, S. A., Trenité, DGAKN, Martins, T., Koeleman, BPC, Jacmin, M, Covanis, A, Boustred, C, Moller, RS, Martins, TG, Sisodiya, SM, Koeleman, B., Sander, T, Mullen, S.A., Sander, T., Nürnberg, P., Lehesjoki, A.E., Berkovic, S.F, Sisodiya, S.M., Mullen, SA, Cordero-Maldonado, M.L., Sadleir, L.G., Palotie, A., Pendziwiat, M, Parisi, P, Capovilla, G, Scheffer, I., Koeleman, BP, Gaudio, LD, Lerche, H., Mullen, S., Veggiotti, P, Myers, C.T., Scheffer, I. E., Koeleman, B. P. C., De Kovel, C., Piccioli, M, Esguerra, C.V., Sisodiya, S. M., Lehesjoki, A. -E., Afrikanova, T., de Kovel, CG, Mefford, HC, Koeleman, B.P.C., Drury, S, Scheffer, IE, Galizia, E.C., Schneider, AL, Mefford, H., Møller, R.S., Krause, R., Galizia, E., Crawford, A.D., Striano, S, Jocic-Jakubi, B, Lench, N., Sadleir, L.   +143 more
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