| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Raffaella Rusconi, Paolo Scalmani, Rita Restano Cassulini, Giulia Giunti, Antonio Gambardella, Silvana Franceschetti, Grazia Annesi, Enzo Wanke, Massimo Mantegazz. Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 27. issue 41. 2007-10-29. PMID:17928445. |
we studied na(v)1.1 (scn1a) na+ channel alpha subunit m1841t mutation, identified in a family characterized by a particularly large phenotypic spectrum. |
2007-10-29 |
2023-08-12 |
Not clear |
| 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 |
| Erin L Heinzen, Woohyun Yoon, Sarah K Tate, Arjune Sen, Nicholas W Wood, Sanjay M Sisodiya, David B Goldstei. Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. American journal of human genetics. vol 80. issue 5. 2007-06-11. PMID:17436242. |
an intronic polymorphism in the scn1a gene, which encodes a neuronal sodium-channel alpha subunit, has been previously associated with the dosing of two commonly used antiepileptic drugs that elicit their pharmacologic action primarily at this ion-channel subunit. |
2007-06-11 |
2023-08-12 |
human |
| 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 |
| Michael von Brevern, Nga Ta, Anupama Shankar, Anna Wiste, Anne Siegel, Andrea Radtke, Thomas Sander, Andrew Escay. Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. Headache. vol 46. issue 7. 2006-12-26. PMID:16866717. |
mv displays several clinical similarities with familial hemiplegic migraine (fhm) and episodic ataxia type 2 (ea-2), which have been linked to mutations in 3 genes, cacna1a, encoding a neuronal calcium channel alpha subunit, atp1a2, encoding a catalytic subunit of a na(+)/k(+)-atpase, and most recently the voltage-gated sodium channel scn1a. |
2006-12-26 |
2023-08-12 |
Not clear |
| John C Mulley, Ingrid E Scheffer, Steven Petrou, Leanne M Dibbens, Samuel F Berkovic, Louise A Harki. SCN1A mutations and epilepsy. Human mutation. vol 25. issue 6. 2006-12-15. PMID:15880351. |
scn1a is part of the scn1a-scn2a-scn3a gene cluster on chromosome 2q24 that encodes for alpha pore forming subunits of sodium channels. |
2006-12-15 |
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 |
| Kazue Kimura, Takashi Sugawara, Emi Mazaki-Miyazaki, Kyoko Hoshino, Yoshiko Nomura, Akihiko Tateno, Kei Hachimori, Kazuhiro Yamakawa, Masaya Segaw. A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Brain & development. vol 27. issue 6. 2005-11-10. PMID:16122630. |
heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (scn1a) are frequently identified in patients with smei; two-thirds of these mutations are truncation mutations (non-sense and frameshift), and one-third are missense mutations. |
2005-11-10 |
2023-08-12 |
Not clear |
| Berten Ceulemans, Marc Boel, Lieve Claes, Lina Dom, Herman Willekens, Paul Thiry, Lieven Laga. Severe myoclonic epilepsy in infancy: toward an optimal treatment. Journal of child neurology. vol 19. issue 7. 2004-12-07. PMID:15526956. |
the treatment regimen of 12 children with dravet syndrome and proven mutations in the alpha subunit of the sodium channel scn1a is reported here. |
2004-12-07 |
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 |
| 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 |
| Jay Spampanato, Ildiko Aradi, Ivan Soltesz, Alan L Goldi. Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus. Journal of neurophysiology. vol 91. issue 5. 2004-05-25. PMID:14702334. |
the biophysical characterization of 3 mutations (t875m, w1204r, and r1648h) in scn1a, the gene encoding the cns voltage-gated sodium channel alpha subunit na(v)1.1, demonstrated a variety of functional effects. |
2004-05-25 |
2023-08-12 |
Not clear |
| 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 |
| J Spampanato, A Escayg, M H Meisler, A L Goldi. Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels. Neuroscience. vol 116. issue 1. 2003-06-24. PMID:12535936. |
nine mutations that cause generalized epilepsy with febrile seizures plus have been identified in the scn1a gene encoding the alpha subunit of the na(v)1.1 voltage-gated sodium channel. |
2003-06-24 |
2023-08-12 |
rat |
| 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 |
| 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 the neuronal voltage-gated sodium channel alpha subunit type 1 gene (scn1a) were recently reported in smei patients. |
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 |
| Christoph Lossin, Dao W Wang, Thomas H Rhodes, Carlos G Vanoye, Alfred L Georg. Molecular basis of an inherited epilepsy. Neuron. vol 34. issue 6. 2002-07-22. PMID:12086636. |
in generalized epilepsy with febrile seizures plus, an autosomal dominant epilepsy syndrome, mutations in three genes coding for voltage-gated sodium channel alpha or beta1 subunits (scn1a, scn2a, scn1b) and one gaba receptor subunit gene (gabrg2) have been identified. |
2002-07-22 |
2023-08-12 |
human |
| Christoph Lossin, Dao W Wang, Thomas H Rhodes, Carlos G Vanoye, Alfred L Georg. Molecular basis of an inherited epilepsy. Neuron. vol 34. issue 6. 2002-07-22. PMID:12086636. |
here, we characterize the functional effects of three mutations in the human neuronal sodium channel alpha subunit scn1a by heterologous expression with its known accessory subunits, beta1 and beta2, in cultured mammalian cells. |
2002-07-22 |
2023-08-12 |
human |
| M Ito, H Nagafuji, H Okazawa, K Yamakawa, T Sugawara, E Mazaki-Miyazaki, S Hirose, G Fukuma, A Mitsudome, K Wada, S Kanek. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. Epilepsy research. vol 48. issue 1-2. 2002-04-02. PMID:11823106. |
autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (na+)-channel alpha 1 subunit gene, scn1a. |
2002-04-02 |
2023-08-12 |
Not clear |