Zobrazeno 1 - 10
of 137
pro vyhledávání: '"lateral temporal epilepsy"'
Autor:
Štefánia Aulická, Jan Šenkyřík, Ivan Rektor, Katarína Česká, Hana Ošlejšková, Pavlína Danhofer, Pavel Říha, Radek Mareček, Milan Brázdil, Ondřej Horák
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 11, Iss, Pp 39-42 (2019)
Epilepsy & Behavior Case Reports
Epilepsy & Behavior Case Reports
Purpose Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy syndrome characterized by focal seizures with dominant auditory symptomatology. We present a case report of an 18-year-old patient with acute onset of seizures a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e4ecc8f0d45e6a52ea3778e409e7b2
http://www.sciencedirect.com/science/article/pii/S221332321830121X
http://www.sciencedirect.com/science/article/pii/S221332321830121X
Autor:
Nagahisa Murakami, Kayoko Tsukita, Ran Shibukawa, Takayuki Kondo, Akio Ikeda, Takako Enami, Ghee Wan Tan, Haruhisa Inoue, Keiko Imamura, Misato Funayama, Riki Matsumoto, Ryosuke Takahashi
Publikováno v:
Stem Cell Research, Vol 24, Iss C, Pp 12-15 (2017)
Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited epileptic syndrome, and it is associated with mutations of leucine-rich glioma inactivated 1 (LGI1) gene. The underlying mechanisms of ADLTE are still unknown, as human neurons are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2192118b10330f0592036a2495b92381
https://doi.org/10.1016/j.scr.2017.07.030
https://doi.org/10.1016/j.scr.2017.07.030
Autor:
Francesca, Bisulli, Laura, Licchetta, Sara, Baldassari, Lorenzo, Muccioli, Caterina, Marconi, Gaetano, Cantalupo, Candace, Myers, Veronica, Menghi, Raffaella, Minardi, Leonardo, Caporali, Carla, Marini, Renzo, Guerrini, Heather C, Mefford, Paolo, Tinuper, Tommaso, Pippucci
Aims. Epilepsy with auditory features (EAF) is a focal epilepsy syndrome characterized by prominent auditory ictal manifestations. Two main genes, LGI1 and RELN, have been implicated in EAF, but the genetic aetiology remains unknown in half of famili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d28149524735d379d59bb05be3dc52bf
http://hdl.handle.net/11562/999125
http://hdl.handle.net/11562/999125
Publikováno v:
European Journal of Paediatric Neurology. 9(2):91-103
The identification of the first genes associated with idiopathic epilepsy has been an important breakthrough in the field of epilepsy research. In almost all cases these genes were found to encode components of voltage- or ligand-gated ion channels o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af70043d745eb920906002ffb8a82e26
https://doi.org/10.1016/j.ejpn.2004.12.005
https://doi.org/10.1016/j.ejpn.2004.12.005
Publikováno v:
Epilepsy & Behavior. 26:126-131
The current study aimed to investigate the electroclinical differences between mesial temporal lobe epilepsy (MTLE) and posterior lateral temporal lobe epilepsy (PLTLE). All patients had Engel class I outcomes after surgery for at least one year. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18d61caa25b4609bc7efb5470858ec08
https://doi.org/10.1016/j.yebeh.2012.09.036
https://doi.org/10.1016/j.yebeh.2012.09.036
Akademický článek
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Autor:
Emanuela Dazzo, Elena Pasini, Patrizia Riguzzi, Lilia Volpi, Carlo Nobile, Roberto Michelucci
Publikováno v:
Current Neurology and Neuroscience Reports. 12:445-455
Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a31c0016d8023c8540f5de935d102f
https://doi.org/10.1007/s11910-012-0281-8
https://doi.org/10.1007/s11910-012-0281-8
Publikováno v:
Histochemistry and Cell Biology. 132:505-513
The Lgi1 protein is involved in the pathogenesis of autosomal dominant lateral temporal epilepsy because mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene have been found in affected subjects and families; however, the function of Lgi1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d16976d53cfcf629af44760bd512c6
https://doi.org/10.1007/s00418-009-0637-6
https://doi.org/10.1007/s00418-009-0637-6
Autor:
Yerma Bartolini, Gabriella Egeo, Roberto Michelucci, Sandro Malacrida, Paola Banfi, Vito Sofia, Patrizia Pulitano, Salvatore Striano, Arturo de Falco, Maurizio Elia, Clementina Boniver, Pasquale Striano, Manuela Fanciulli, Carlo Di Bonaventura, Patrizia Riguzzi, Anna Teresa Giallonardo, Oriano Mecarelli, Tiziana Pisano, Angela La Neve, Emanuela Dazzo, Francesca Bisulli, Carlo Nobile, Lia Santulli, Antonio Gambardella, Marco Marchini, Simona Binelli, Patrizia Avoni, Giangennaro Coppola, Paolo Tinuper, Elena Pasini, Lilia Volpi, Fabrizio A. de Falco
SummaryPurpose In relatively small series, autosomal dominant lateral temporal epilepsy (ADLTE) has been associated with leucine-rich, glioma-inactivated 1 (LGI1) mutations in about 50% of the families, this genetic heterogeneity being probably cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a64ebe7bd3b84035eae5e8723be9b3a
http://hdl.handle.net/11585/173675
http://hdl.handle.net/11585/173675
Autor:
Di Bonaventura, C., Opertoff, Busolin, G., Egeo, G., D'Aniello, A., Vitello, L., Smaniotto, G., Furlan, S., Diani, E., Michelucci, R., Giallonardo, Anna Teresa, Coppola, G., Nobilec
To describe the clinical and genetic findings of four families with autosomal dominant lateral temporal epilepsy.A personal and family history was obtained from each affected and unaffected subject along with a physical and neurologic examination. Ro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5eddacaaa1121fc9b88fdf827dff83f4
http://hdl.handle.net/11577/119744
http://hdl.handle.net/11577/119744