Results 21 to 30 of about 2,936,182 (239)

Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies [PDF]

Epilepsia, 2006
Summary:  Purpose: Idiopathic generalized epilepsy (IGE) accounts for ∼20% of all epilepsies and affects about 0.2% of the general population. The etiology of IGE is genetically determined, but the complex pattern of inheritance suggests an involvement of a large number of susceptibility genes.
Hempelmann A., Taylor K. P., Heils A., Lorenz S., Prud'Homme J. -F., Nabbout R., Dulac O., Rudolf G., Zara F., Bianchi A., Robinson R., Mark Gardiner R., Covanis A., Lindhout D., Stephani U., Elger C. E., Weber Y. G., Lerche H., Nurnberg P., Kron K. L., Scheffer I. E., Mulley J. C., Berkovic S. F., Sander T.   +23 more
openaire   +4 more sources

The role of thalamic nuclei in genetic generalized epilepsies

Epilepsy Research, 2022
There is no doubt on the participation of the thalamus in the various types of genetic generalized epilepsies as evidenced by multiple non-invasive imaging studies in humans as well as invasive studies in animal models of GGE. Based on human and mostly animal data gathered in early 2000 a so called 'three compartment model' on seizure generation was ...
Luttjohann, A.K., van Luijtelaar, E.L.J.M., van Luijtelaar, E.L.J.M.   +2 more
openaire   +4 more sources

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
core   +1 more source

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., 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., Myers, CT, Chinthapalli, V. K., Stephani, U, Del Gaudio, L., De Kovel, CGF, Chinthapalli, VK, Veggiotti, P., Lehesjoki, AE, Jacmin, M., Drury, S., Piccioli, M., Berkovic, S. F., Esguerra, C., Trenite, D., 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., Crawford, AD, Schubert, J., 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., 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, Sander, T., Nürnberg, P., Mullen, SA, Palotie, A., Pendziwiat, M, Parisi, P, Capovilla, G, Scheffer, I., Koeleman, BP, Gaudio, LD, Lerche, H., Mullen, S., Veggiotti, P, Scheffer, I. E., Koeleman, B. P. C., De Kovel, C., Piccioli, M, Sisodiya, S. M., Lehesjoki, A. -E., Afrikanova, T., de Kovel, CG, Mefford, HC, Drury, S, Scheffer, IE, Schneider, AL, Mefford, H., Krause, R., Galizia, E., Striano, S, Jocic-Jakubi, B, Lench, N., Sadleir, L.   +122 more
core   +1 more source

Investigation of the Genetic Etiology in Idiopathic Generalized Epileptic Disorders by Targeted Next-generation Sequencing Technique

Balkan Medical Journal, 2023
Background: Idiopathic generalized epilepsy is the most common group of epilepsy disorders in children and adolescents. Various types of genetic abnormality were identified among the hereditary factors that explain epilepsy.
Engin Atlı, Hakan Gürkan, Babürhan Güldiken, Damla Eker, Sinem Yalçıntepe, Selma Demir, Emine İkbal Atlı   +6 more
doaj   +1 more source

Effects of GRM4, SCN2A and SCN3B polymorphisms on antiepileptic drugs responsiveness and epilepsy susceptibility

Saudi Pharmaceutical Journal, 2019
Background: Pharmacotherapy of epilepsy including antiepileptic drugs (AEDs) is one of the main treatment approaches. As a biological target, sodium channels (Nav channels) and glutamate receptor genes are playing a major role in the etiology and ...
Laith N. AL-Eitan, Islam M. Al-Dalalah, Hanan A. Aljamal   +2 more
doaj   +1 more source

Genetic epilepsy with febrile seizures plus – an overview [PDF]

Romanian Journal of Neurology, 2021
Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small ...
Madalina Radu, Eugenia Roza, Daniel Mihai Teleanu, Raluca Ioana Teleanu   +3 more
doaj   +1 more source

Genetics of Idiopathic Generalized Epilepsies [PDF]

Epilepsia, 2005
Summary:  The idiopathic generalized epilepsies (IGEs) are considered to be primarily genetic in origin. They encompass a number of rare mendelian or monogenic epilepsies and more common forms which are familial but manifest as complex, non‐mendelian traits. Recent advances have demonstrated that many monogenic IGEs are ion channelopathies.
openaire   +2 more sources

Generalized epilepsies: current conceptions and therapeutic approaches

Неврология, нейропсихиатрия, психосоматика, 2012
The concepts of generalized epilepsy have recently undergone considerable changes: the features of focality in generalized epilepsies and the typical features of idiopathic generalized epilepsies in focal epilepsies have been revealed.
L R Zenkov
doaj   +1 more source

A patient with a 6q22.1 deletion and a phenotype of non-progressive early-onset generalized epilepsy with tremor

Epilepsy & Behavior Reports, 2021
We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years.
Kazuhiro Haginoya, Futoshi Sekiguchi, Mitsutoshi Munakata, Hiroyuki Yokoyama, Naomi Hino-Fukuyo, Mitsugu Uematsu, Kazutaka Jin, Kenichi Nagamatsu, Tadashi Ando, Noriko Miyake, Naomichi Matsumoto, Shigeo Kure   +11 more
doaj   +1 more source