| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Takeshi Kanaumi, Sachio Takashima, Hiroshi Iwasaki, Akihisa Mitsudome, Shinichi Hiros. Developmental changes in the expression of GABAA receptor alpha 1 and gamma 2 subunits in human temporal lobe, hippocampus and basal ganglia: an implication for consideration on age-related epilepsy. Epilepsy research. vol 71. issue 1. 2006-10-24. PMID:16829043. |
developmental changes in the expression of gabaa receptor alpha 1 and gamma 2 subunits in human temporal lobe, hippocampus and basal ganglia: an implication for consideration on age-related epilepsy. |
2006-10-24 |
2023-08-12 |
human |
| Takeshi Kanaumi, Sachio Takashima, Hiroshi Iwasaki, Akihisa Mitsudome, Shinichi Hiros. Developmental changes in the expression of GABAA receptor alpha 1 and gamma 2 subunits in human temporal lobe, hippocampus and basal ganglia: an implication for consideration on age-related epilepsy. Epilepsy research. vol 71. issue 1. 2006-10-24. PMID:16829043. |
mutations of genes encoding gaba(a) receptor alpha 1 (gabara1) and gamma 2 subunit (gabarg2) are associated with age-dependent epilepsy. |
2006-10-24 |
2023-08-12 |
human |
| Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, Fausta Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqualetti, Andrea Becchetti, Renzo Guerrini, Giorgio Casar. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. American journal of human genetics. vol 79. issue 2. 2006-09-14. PMID:16826524. |
increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. |
2006-09-14 |
2023-08-12 |
Not clear |
| Paolo Aridon, Carla Marini, Chiara Di Resta, Elisa Brilli, Maurizio De Fusco, Fausta Politi, Elena Parrini, Irene Manfredi, Tiziana Pisano, Dario Pruna, Giulia Curia, Carlo Cianchetti, Massimo Pasqualetti, Andrea Becchetti, Renzo Guerrini, Giorgio Casar. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. American journal of human genetics. vol 79. issue 2. 2006-09-14. PMID:16826524. |
autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the alpha 4 and beta 2 subunits of the neuronal nicotinic acetylcholine receptor. |
2006-09-14 |
2023-08-12 |
Not clear |
| Thomas H Rhodes, Carlos G Vanoye, Iori Ohmori, Ikuo Ogiwara, Kazuhiro Yamakawa, Alfred L Georg. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. The Journal of physiology. vol 569. issue Pt 2. 2006-02-16. PMID:16210358. |
mutations in scn1a, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (na(v)1.1), are associated with genetic forms of epilepsy, including generalized epilepsy with febrile seizures plus (gefs+ type 2), severe myoclonic epilepsy of infancy (smei) and related conditions. |
2006-02-16 |
2023-08-12 |
human |
| Romina Combi, Leda Dalprà, Luigi Ferini-Strambi, Maria L Tenchin. Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. Annals of neurology. vol 58. issue 6. 2006-01-31. PMID:16222669. |
nocturnal frontal lobe epilepsy up to now has been considered a channelopathy caused by mutations in the alpha(4) and beta(2) subunits of the neuronal nicotinic acetylcholine receptor. |
2006-01-31 |
2023-08-12 |
Not clear |
| Pål G Larsson, H Kosto. Lower frequency variability in the alpha activity in EEG among patients with epilepsy. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. vol 116. issue 11. 2006-01-03. PMID:16221562. |
lower frequency variability in the alpha activity in eeg among patients with epilepsy. |
2006-01-03 |
2023-08-12 |
Not clear |
| Pål G Larsson, H Kosto. Lower frequency variability in the alpha activity in EEG among patients with epilepsy. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. vol 116. issue 11. 2006-01-03. PMID:16221562. |
the aim of the present study was to document the clinical notion of differences in alpha frequency variations in patients with epilepsy compared to a control group. |
2006-01-03 |
2023-08-12 |
Not clear |
| Nivalda O Rodrigues-Pinguet, Thierry J Pinguet, Antonio Figl, Henry A Lester, Bruce N Cohe. Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. Molecular pharmacology. vol 68. issue 2. 2005-08-23. PMID:15901849. |
mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. |
2005-08-23 |
2023-08-12 |
rat |
| Asher Peretz, Nurit Degani, Rachel Nachman, Yael Uziyel, Gilad Gibor, Doron Shabat, Bernard Attal. Meclofenamic acid and diclofenac, novel templates of KCNQ2/Q3 potassium channel openers, depress cortical neuron activity and exhibit anticonvulsant properties. Molecular pharmacology. vol 67. issue 4. 2005-04-20. PMID:15598972. |
furthermore, the kcnq2 and kcnq3 channel alpha subunits are mutated in families with benign familial neonatal convulsions, a neonatal form of epilepsy. |
2005-04-20 |
2023-08-12 |
Not clear |
| Thomas H Rhodes, Christoph Lossin, Carlos G Vanoye, Dao W Wang, Alfred L Georg. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proceedings of the National Academy of Sciences of the United States of America. vol 101. issue 30. 2004-08-25. PMID:15263074. |
mutations in scn1a, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (na(v)1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy (smei). |
2004-08-25 |
2023-08-12 |
human |
| Janet L Fishe. A mutation in the GABAA receptor alpha 1 subunit linked to human epilepsy affects channel gating properties. Neuropharmacology. vol 46. issue 5. 2004-06-15. PMID:14996540. |
a mutation in the gabaa receptor alpha 1 subunit linked to human epilepsy affects channel gating properties. |
2004-06-15 |
2023-08-12 |
human |
| Kazusaku Kamiya, Makoto Kaneda, Takashi Sugawara, Emi Mazaki, Nami Okamura, Mauricio Montal, Naomasa Makita, Masaki Tanaka, Katsuyuki Fukushima, Tateki Fujiwara, Yushi Inoue, Kazuhiro Yamakaw. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 24. issue 11. 2004-05-28. PMID:15028761. |
mutations, exclusively missense, of voltage-gated sodium channel alpha subunit type 1 (scn1a) and type 2 (scn2a) genes were reported in patients with idiopathic epilepsy: generalized epilepsy with febrile seizures plus. |
2004-05-28 |
2023-08-12 |
human |
| Goryu Fukuma, Hirokazu Oguni, Yukiyoshi Shirasaka, Kazuyoshi Watanabe, Tasuku Miyajima, Sawa Yasumoto, Masaharu Ohfu, Takahito Inoue, Aruchalean Watanachai, Ryutaro Kira, Muneaki Matsuo, Hideki Muranaka, Fumiko Sofue, Bo Zhang, Sunao Kaneko, Akihisa Mitsudome, Shinichi Hiros. Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia. vol 45. issue 2. 2004-03-11. PMID:14738421. |
mutations of neuronal voltage-gated na+ channel alpha 1 subunit gene scn1a in core severe myoclonic epilepsy in infancy (smei) and in borderline smei (smeb). |
2004-03-11 |
2023-08-12 |
Not clear |
| R C Hogg, D Bertran. Regulating the regulators: the role of nicotinic acetylcholine receptors in human epilepsy. Drug news & perspectives. vol 16. issue 5. 2004-02-20. PMID:12942156. |
mutations in genes coding for the alpha(4) and beta(2) subunits of the nicotinic acetylcholine receptor have been found in some families suffering from autosomal dominant nocturnal frontal lobe epilepsy. |
2004-02-20 |
2023-08-12 |
human |
| Ailsa McLellan, Hilary A Phillips, Christopher Rittey, Martin Kirkpatrick, John C Mulley, David Goudie, John B P Stephenson, John Tolmie, Ingrid E Scheffer, Samuel F Berkovic, Sameer M Zuber. Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. vol 44. issue 4. 2003-09-09. PMID:12681012. |
mutations in genes coding for the alpha 4 and beta 2 subunits of the neuronal nicotinic acetylcholine receptor receptor (chrn) are known to cause autosomal dominant nocturnal frontal lobe epilepsy (adnfle). |
2003-09-09 |
2023-08-12 |
Not clear |
| Sinichi Hiros. [Genetics of epilepsy]. Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica. vol 105. issue 4. 2003-08-08. PMID:12806902. |
mutations in the voltage-gated na(+)-channel alpha 1, 2 and beta 1 and the gabaa receptor gamma 2 subunit genes were found as a cause of dominant epilepsy with febrile seizures plus, a clinical subset of febrile seizures. |
2003-08-08 |
2023-08-12 |
human |
| Sinichi Hiros. [Genetics of epilepsy]. Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica. vol 105. issue 4. 2003-08-08. PMID:12806902. |
abnormalities of na(+)-channel alpha 1 subunit were also associated with severe myoclonic epilepsy in infancy. |
2003-08-08 |
2023-08-12 |
human |
| Tateki Fujiwara, Takashi Sugawara, Emi Mazaki-Miyazaki, Yukitoshi Takahashi, Katsuyuki Fukushima, Masako Watanabe, Keita Hara, Tateki Morikawa, Kazuichi Yagi, Kazuhiro Yamakawa, Yushi Inou. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain : a journal of neurology. vol 126. issue Pt 3. 2003-05-09. PMID:12566275. |
mutations of sodium channel alpha subunit type 1 (scn1a) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. |
2003-05-09 |
2023-08-12 |
Not clear |
| Patrick Cossette, Andrew Loukas, Ronald G Lafrenière, Daniel Rochefort, Eric Harvey-Girard, David S Ragsdale, Robert J Dunn, Guy A Roulea. Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy research. vol 53. issue 1-2. 2003-04-09. PMID:12576172. |
mutations in the alpha 1 subunit of the voltage-gated sodium channel (scn1a) have been increasingly recognized as an important cause of familial epilepsy in humans. |
2003-04-09 |
2023-08-12 |
Not clear |