| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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. |
several missense mutations of the (na(+))-channel alpha 1 subunit (nav1.1) gene, scn1a were also identified in gefs+2 families at chromosome 2q23-q24.3. |
2002-04-02 |
2023-08-12 |
Not clear |
| J Spampanato, A Escayg, M H Meisler, A L Goldi. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 21. issue 19. 2001-10-11. PMID:11567038. |
two mutations that cause generalized epilepsy with febrile seizures plus (gefs+) have been identified previously in the scn1a gene encoding the alpha subunit of the na(v)1.1 voltage-gated sodium channel (escayg et al., 2000). |
2001-10-11 |
2023-08-12 |
rat |
| T Sugawara, E Mazaki-Miyazaki, M Ito, H Nagafuji, G Fukuma, A Mitsudome, K Wada, S Kaneko, S Hirose, K Yamakaw. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology. vol 57. issue 4. 2001-09-27. PMID:11524484. |
recent evidence has suggested that the neuronal voltage-gated sodium channel alpha(1)-subunit gene (na(v)1.1: scn1a) is responsible for generalized epilepsy with febrile seizures plus (gefs+2). |
2001-09-27 |
2023-08-12 |
Not clear |
| M S Malo, B J Blanchard, J M Andresen, K Srivastava, X N Chen, X Li, E W Jabs, J R Korenberg, V M Ingra. Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. Cytogenetics and cell genetics. vol 67. issue 3. 1994-09-16. PMID:8062593. |
we have identified four putative human sodium channel gene sequences, 55 bp each, using the polymerase chain reaction (pcr) on total human placental dna with primers specific for the cdna sequence of the rat brain sodium channel i alpha (scn1a) gene. |
1994-09-16 |
2023-08-12 |
human |