| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| I Ogiwara, K Ito, Y Sawaishi, H Osaka, E Mazaki, I Inoue, M Montal, T Hashikawa, T Shike, T Fujiwara, Y Inoue, M Kaneda, K Yamakaw. De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology. vol 73. issue 13. 2009-10-21. PMID:19786696. |
mutations of voltage-gated sodium channel alpha(ii) gene, scn2a, have been described in a wide spectrum of epilepsies. |
2009-10-21 |
2023-08-12 |
Not clear |
| Geraldine A Fuller-Bicer, Gyula Varadi, Sheryl E Koch, Masakazu Ishii, Ilona Bodi, Nijiat Kadeer, James N Muth, Gabor Mikala, Natalia N Petrashevskaya, Michael A Jordan, Sui-Po Zhang, Ning Qin, Christopher M Flores, Idit Isaacsohn, Maria Varadi, Yasuo Mori, W Keith Jones, Arnold Schwart. Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit. American journal of physiology. Heart and circulatory physiology. vol 297. issue 1. 2009-08-12. PMID:19429829. |
the alpha(2)/delta-1-subunit possesses a stereoselective, high-affinity binding site for gabapentin, widely used to treat epilepsy and postherpetic neuralgic pain as well as sleep disorders. |
2009-08-12 |
2023-08-12 |
mouse |
| Geraldine A Fuller-Bicer, Gyula Varadi, Sheryl E Koch, Masakazu Ishii, Ilona Bodi, Nijiat Kadeer, James N Muth, Gabor Mikala, Natalia N Petrashevskaya, Michael A Jordan, Sui-Po Zhang, Ning Qin, Christopher M Flores, Idit Isaacsohn, Maria Varadi, Yasuo Mori, W Keith Jones, Arnold Schwart. Targeted disruption of the voltage-dependent calcium channel alpha2/delta-1-subunit. American journal of physiology. Heart and circulatory physiology. vol 297. issue 1. 2009-08-12. PMID:19429829. |
mutations in alpha(2)/delta-subunits of voltage-dependent ca(2+) channels have been associated with different diseases, including epilepsy. |
2009-08-12 |
2023-08-12 |
mouse |
| Huihui Sun, Yuehua Zhang, Xiaoyan Liu, Xiuwei Ma, Husheng Wu, Keming Xu, Jiong Qin, Yu Qi, Xiru W. [Mutation analysis of the SCN1A gene in severe myoclonic epilepsy of infancy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 26. issue 2. 2009-07-28. PMID:19350499. |
to investigate the mutations of the sodium channel alpha 1 subunit gene scn1a in severe myoclonic epilepsy of infancy (smei) patients and analyze its inheritance. |
2009-07-28 |
2023-08-12 |
Not clear |
| Ingrid E Scheffer, Yue-Hua Zhang, Floor E Jansen, Leanne Dibben. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain & development. vol 31. issue 5. 2009-07-09. PMID:19203856. |
dravet syndrome and genetic epilepsy with febrile seizures plus (gefs+) can both arise due to mutations of scn1a, the gene encoding the alpha 1 pore-forming subunit of the sodium channel. |
2009-07-09 |
2023-08-12 |
Not clear |
| Naomi Hino-Fukuyo, Kazuhiro Haginoya, Noriko Togashi, Mitsugu Uematsu, Taro Kitamura, Yosuke Kakisaka, Mamiko Ishitobi, Keisuke Wakusawa, Kazuie Iinuma, Hirokazu Oguni, Kazuhiro Yamakawa, Shigeru Tsuchiy. Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy: a case report. Journal of child neurology. vol 24. issue 2. 2009-05-19. PMID:19182163. |
the diagnosis of severe myoclonic epilepsy in infancy was confirmed by detecting a mutation in the voltage-gated sodium channel alpha subunit type gene. |
2009-05-19 |
2023-08-12 |
Not clear |
| Bin Wang, Brad S Rothberg, Robert Brenne. Mechanism of increased BK channel activation from a channel mutation that causes epilepsy. The Journal of general physiology. vol 133. issue 3. 2009-05-18. PMID:19204188. |
gain-of-function bk channels in mouse knockout of the inhibitory beta 4 subunit and in a human mutation (alpha(d434g)) have been linked to epilepsy. |
2009-05-18 |
2023-08-12 |
mouse |
| M-J Castro, A H Stam, C Lemos, B de Vries, K R J Vanmolkot, J Barros, G M Terwindt, R R Frants, J Sequeiros, M D Ferrari, J M Pereira-Monteiro, A M J M van den Maagdenber. First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. Cephalalgia : an international journal of headache. vol 29. issue 3. 2009-04-30. PMID:19220312. |
almost all mutations in the scn1a gene, encoding the alpha(1) subunit of neuronal voltage-gated na(v)1.1 sodium channels, are associated with severe childhood epilepsy. |
2009-04-30 |
2023-08-12 |
Not clear |
| John C Oakley, Franck Kalume, Frank H Yu, Todd Scheuer, William A Catteral. Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Proceedings of the National Academy of Sciences of the United States of America. vol 106. issue 10. 2009-03-26. PMID:19234123. |
heterozygous loss-of-function mutations in the alpha subunit of the type i voltage-gated sodium channel na(v)1.1 cause severe myoclonic epilepsy in infancy (smei), an infantile-onset epileptic encephalopathy characterized by normal development followed by treatment-refractory febrile and afebrile seizures and psychomotor decline. |
2009-03-26 |
2023-08-12 |
mouse |
| Pasquale Striano, Salvatore Strian. Gabapentin: a Ca2+ channel alpha 2-delta ligand far beyond epilepsy therapy. Drugs of today (Barcelona, Spain : 1998). vol 44. issue 5. 2008-09-16. PMID:18548137. |
gabapentin: a ca2+ channel alpha 2-delta ligand far beyond epilepsy therapy. |
2008-09-16 |
2023-08-12 |
Not clear |
| David S Ragsdal. How do mutant Nav1.1 sodium channels cause epilepsy? Brain research reviews. vol 58. issue 1. 2008-09-11. PMID:18342948. |
more than 200 mutations in the nav1.1 alpha subtype have been linked to inherited epilepsy syndromes, ranging in severity from the comparatively mild disorder generalized epilepsy with febrile seizures plus to the epileptic encephalopathy severe myoclonic epilepsy of infancy. |
2008-09-11 |
2023-08-12 |
Not clear |
| Claudio Zucca, Francesca Redaelli, Roberta Epifanio, Nicoletta Zanotta, Antonino Romeo, Monica Lodi, Pierangelo Veggiotti, Giovanni Airoldi, Chris Panzeri, Romina Romaniello, Gianni De Polo, Paolo Bonanni, Simonetta Cardinali, Cinzia Baschirotto, Loreto Martorell, Renato Borgatti, Nereo Bresolin, Maria Teresa Bass. Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. Archives of neurology. vol 65. issue 4. 2008-05-21. PMID:18413471. |
sodium channel alpha 1 subunit gene, scn1a, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (na(v)1.1) and is mutated in different forms of epilepsy. |
2008-05-21 |
2023-08-12 |
Not clear |
| Harry T Chugani, Csaba Juhász, Diane C Chugani, Lesley Lawrenson, Otto Muzik, Pulak K Chakraborty, Sandeep Soo. Increased striatal serotonin synthesis following cortical resection in children with intractable epilepsy. Epilepsy research. vol 78. issue 2-3. 2008-04-23. PMID:18083006. |
in this study we used positron emission tomography (pet) with alpha[11c]methyl-l-tryptophan (amt) to evaluate serotonergic alterations in subcortical structures following cortical resection in children with intractable epilepsy. |
2008-04-23 |
2023-08-12 |
Not clear |
| C R Chen, W M Qu, M H Qiu, X H Xu, M H Yao, Y Urade, Z L Huan. Modafinil exerts a dose-dependent antiepileptic effect mediated by adrenergic alpha1 and histaminergic H1 receptors in mice. Neuropharmacology. vol 53. issue 4. 2007-12-20. PMID:17681557. |
taken together, the present findings indicate that modafinil exerted its antiepileptic effect via adrenergic alpha(1) and histaminergic h(1) receptors, and might be of potential use in the treatment of epilepsy. |
2007-12-20 |
2023-08-12 |
mouse |
| Amber J Picton, Janet L Fishe. Effect of the alpha subunit subtype on the macroscopic kinetic properties of recombinant GABA(A) receptors. Brain research. vol 1165. 2007-10-26. PMID:17658489. |
the expression of each of the different alpha subtypes is regulated developmentally and regionally and changes with both normal physiological processes such development and synaptic plasticity, and pathological conditions such as epilepsy. |
2007-10-26 |
2023-08-12 |
Not clear |
| Kana Namiki, Akira Nakamura, Mitsuko Furuya, Satomi Mizuhashi, Yuji Matsuo, Naoki Tokuhara, Tatsuhiko Sudo, Hiroshi Hama, Tomoyuki Kuwaki, Shingo Yano, Sadao Kimura, Yoshitoshi Kasuy. Involvement of p38alpha in kainate-induced seizure and neuronal cell damage. Journal of receptor and signal transduction research. vol 27. issue 2-3. 2007-09-12. PMID:17613723. |
we investigated how p38alpha mitogen-activated protein kinase (p38) is related to kainate-induced epilepsy and neuronal damages, by using the mice with a single copy disruption of the p38 alpha gene (p38alpha(+/-)). |
2007-09-12 |
2023-08-12 |
mouse |
| Hitoshi Osaka, Ikuo Ogiwara, Emi Mazaki, Nami Okamura, Sumimasa Yamashita, Mizue Iai, Michiko Yamada, Kenji Kurosawa, Hiroko Iwamoto, Norio Yasui-Furukori, Sunao Kaneko, Tateki Fujiwara, Yushi Inoue, Kazuhiro Yamakaw. Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Epilepsy research. vol 75. issue 1. 2007-08-15. PMID:17507202. |
we investigated the roles of mutations in voltage-gated sodium channel alpha 1 subunit gene (scn1a) in epilepsies and psychiatric disorders. |
2007-08-15 |
2023-08-12 |
Not clear |
| Louise A Harkin, Jacinta M McMahon, Xenia Iona, Leanne Dibbens, James T Pelekanos, Sameer M Zuberi, Lynette G Sadleir, Eva Andermann, Deepak Gill, Kevin Farrell, Mary Connolly, Thorsten Stanley, Michael Harbord, Frederick Andermann, Jing Wang, Sat Dev Batish, Jeffrey G Jones, William K Seltzer, Alison Gardner, Grant Sutherland, Samuel F Berkovic, John C Mulley, Ingrid E Scheffe. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain : a journal of neurology. vol 130. issue Pt 3. 2007-04-16. PMID:17347258. |
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. |
2007-04-16 |
2023-08-12 |
Not clear |
| b' I Rektor, D Soch\\xc5\\xafrkov\\xc3\\xa1, M Bockov\\xc3\\xa. Intracerebral ERD/ERS in voluntary movement and in cognitive visuomotor task. Progress in brain research. vol 159. 2007-01-26. PMID:17071240.' |
the bereitschaftspotential (bp) and alpha (8-12 hz) and beta (16-24 hz) erd/ers rhythms in self-paced simple movements were analyzed in 14 epilepsy surgery candidates. |
2007-01-26 |
2023-08-12 |
human |
| YogendraSinh H Raol, Ingrid V Lund, Sabita Bandyopadhyay, Guojun Zhang, Daniel S Roberts, John H Wolfe, Shelley J Russek, Amy R Brooks-Kaya. Enhancing GABA(A) receptor alpha 1 subunit levels in hippocampal dentate gyrus inhibits epilepsy development in an animal model of temporal lobe epilepsy. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 26. issue 44. 2006-11-14. PMID:17079662. |
enhancing gaba(a) receptor alpha 1 subunit levels in hippocampal dentate gyrus inhibits epilepsy development in an animal model of temporal lobe epilepsy. |
2006-11-14 |
2023-08-12 |
rat |