| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Makiko Saitoh, Mayu Shinohara, Hideki Hoshino, Masaya Kubota, Kaoru Amemiya, Jun-Lchi Takanashi, Su-Kyeong Hwang, Shinichi Hirose, Masashi Mizuguch. Mutations of the SCN1A gene in acute encephalopathy. Epilepsia. vol 53. issue 3. 2012-04-23. PMID:22309220. |
recently, there have been sporadic case reports of epilepsy/febrile seizure and acute encephalopathy with a neuronal sodium channel alpha 1 subunit (scn1a) mutation. |
2012-04-23 |
2023-08-12 |
Not clear |
| Wen-Chin Weng, Shinichi Hirose, Wang-Tso Le. Benign convulsions with mild gastroenteritis: is it associated with sodium channel gene SCN1A mutation? Journal of child neurology. vol 25. issue 12. 2011-11-15. PMID:20519669. |
the authors prospectively studied the clinical features of benign convulsions with mild gastroenteritis in taiwanese children and clarified the relationship between neuronal sodium channel alpha 1 subunit (scn1a) gene and benign convulsions with mild gastroenteritis. |
2011-11-15 |
2023-08-12 |
Not clear |
| Richard E Fry. Leber's hereditary optic neuropathy mutations associated with infantile-onset myoclonic epilepsy. Journal of child neurology. vol 26. issue 6. 2011-09-19. PMID:21527392. |
dravet's severe myoclonic epilepsy in infancy is especially interesting as it is associated with fever-provoked seizures and mutations in the alpha subunit of the sodium channel (scn1a) in about one-third of the cases. |
2011-09-19 |
2023-08-12 |
Not clear |
| Katsuhiro Kobayashi, Mamoru Ouchida, Akihisa Okumura, Yoshihiro Maegaki, Itsuko Nishiyama, Hideki Matsui, Yoko Ohtsuka, Iori Ohmor. Genetic seizure susceptibility underlying acute encephalopathies in childhood. Epilepsy research. vol 91. issue 2-3. 2011-08-15. PMID:20675100. |
we undertook the mutational analysis of the neuronal sodium channel alpha 1 subunit (scn1a) gene which is the most representative gene for hyperthermia-induced seizure susceptibility. |
2011-08-15 |
2023-08-12 |
Not clear |
| Shan Tang, Jean Pierre Lin, Elaine Hughes, Ata Siddiqui, Ming Lim, Karine Lascelle. Encephalopathy and SCN1A mutations. Epilepsia. vol 52. issue 4. 2011-06-01. PMID:21426328. |
we describe three children with genetically different sodium channel alpha 1 subunit (scn1a) mutation associated epilepsy who experienced a sudden and sustained neurologic regression following status epilepticus in two and acute sepsis in one. |
2011-06-01 |
2023-08-12 |
Not clear |
| Charlotte Drave. Dravet syndrome history. Developmental medicine and child neurology. vol 53 Suppl 2. 2011-05-18. PMID:21504424. |
around 70% of affected patients are carriers of a mutation on the alpha subunit of the scn1a gene. |
2011-05-18 |
2023-08-12 |
Not clear |
| Mei-Juan Yu, Yi-Wu Shi, Mei-Mei Gao, Wei-Yi Deng, Xiao-Rong Liu, Li Chen, Yue-Sheng Long, Yong-Hong Yi, Wei-Ping Lia. Milder phenotype with SCN1A truncation mutation other than SMEI. Seizure. vol 19. issue 7. 2010-12-02. PMID:20630778. |
till now truncation mutations of voltage-gated sodium channel alpha subunit type i (scn1a) gene were mostly found in severe myoclonic epilepsy of infancy (smei) patients. |
2010-12-02 |
2023-08-12 |
Not clear |
| Masaru Takayanagi, Kazuhiro Haginoya, Naoki Umehara, Taro Kitamura, Yurika Numata, Keisuke Wakusawa, Naomi Hino-Fukuyo, Emi Mazaki, Kazuhiro Yamakawa, Toshihiro Ohura, Masatoshi Ohtak. Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. Epilepsia. vol 51. issue 9. 2010-10-15. PMID:20491869. |
mutations were detected in the neuronal voltage-gated sodium channel alpha subunit type 1 (scn1a) gene. |
2010-10-15 |
2023-08-12 |
Not clear |
| Tojo Nakayama, Ikuo Ogiwara, Koichi Ito, Makoto Kaneda, Emi Mazaki, Hitoshi Osaka, Hideyuki Ohtani, Yushi Inoue, Tateki Fujiwara, Mitsugu Uematsu, Kazuhiro Haginoya, Shigeru Tsuchiya, Kazuhiro Yamakaw. Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. Human mutation. vol 31. issue 7. 2010-10-04. PMID:20506560. |
mutations involving the voltage-gated sodium channel alpha(i) gene scn1a are major genetic causes of childhood epileptic disorders, as typified by dravet syndrome. |
2010-10-04 |
2023-08-12 |
Not clear |
| E V Gazina, K L Richards, M B C Mokhtar, E A Thomas, C A Reid, S Petro. Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain. Neuroscience. vol 166. issue 1. 2010-05-04. PMID:20006674. |
sodium channel alpha subunit genes expressed in the human brain, scn1a, scn2a, scn3a and scn8a, are subject to alternative splicing of coding exons 5n and 5a. |
2010-05-04 |
2023-08-12 |
mouse |
| E V Gazina, K L Richards, M B C Mokhtar, E A Thomas, C A Reid, S Petro. Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain. Neuroscience. vol 166. issue 1. 2010-05-04. PMID:20006674. |
differences in the strength of exon 5n and/or exon 5a splice sites in scn2a pre-mrna as compared to scn1a and scn8a may underlie the observed differences in 5n/5a ratios in the three alpha subunit mrnas. |
2010-05-04 |
2023-08-12 |
mouse |
| S Gökben, A Berdeli, G Serdaroğl. An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy. Neuropediatrics. vol 40. issue 2. 2009-12-07. PMID:19809937. |
several mutations of the sodium channel alpha 1 subunit (scn1a ) gene were reported in patients with smei. |
2009-12-07 |
2023-08-12 |
Not clear |
| Gustavo A Patino, Lieve R F Claes, Luis F Lopez-Santiago, Emily A Slat, Raja S R Dondeti, Chunling Chen, Heather A O'Malley, Charles B B Gray, Haruko Miyazaki, Nobuyuki Nukina, Fumitaka Oyama, Peter De Jonghe, Lori L Iso. A functional null mutation of SCN1B in a patient with Dravet syndrome. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 29. issue 34. 2009-09-10. PMID:19710327. |
most patients have heterozygous mutations in scn1a, encoding voltage-gated sodium channel na(v)1.1 alpha subunits. |
2009-09-10 |
2023-08-12 |
mouse |
| Neslihan N Tavraz, Katharina L Dürr, Jan B Koenderink, Tobias Freilinger, Ernst Bamberg, Martin Dichgans, Thomas Friedric. Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine. Channels (Austin, Tex.). vol 3. issue 2. 2009-09-01. PMID:19372756. |
mutations in three different genes have been implicated in familial hemiplegic migraine (fhm), two of them code for neuronal voltage-gated cation channels, cacna1a and scn1a, while the third encodes atp1a2, the alpha(2)-isoform of the na(+)/k(+)-atpase's catalytic subunit, thus classifying fhm as an ion channel/ion transporter disorder. |
2009-09-01 |
2023-08-12 |
xenopus_laevis |
| 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 |
| 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 |
| Tomohide Abe, Takayuki Seo, Takateru Ishitsu, Takehiro Nakagawa, Masaharu Hori, Kazuko Nakagaw. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. British journal of clinical pharmacology. vol 66. issue 2. 2008-09-24. PMID:18489610. |
to establish whether the scn1a ivs5-91 g > a polymorphism of the scn1a gene, which encodes the neuronal sodium channel alpha subunit, affects responsiveness to the antiepileptic drugs (aeds) carbamazepine and/or phenytoin. |
2008-09-24 |
2023-08-12 |
Not clear |
| Sandrine Cestèle, Paolo Scalmani, Raffaella Rusconi, Benedetta Terragni, Silvana Franceschetti, Massimo Mantegazz. Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 28. issue 29. 2008-08-12. PMID:18632931. |
mutations causing fhm (type 3) have been identified in scn1a, the gene encoding neuronal voltage-gated na(v)1.1 na(+) channel alpha subunit, but functional studies have been done using the cardiac na(v)1.5 isoform, and the observed effects were similar to those of some epileptogenic mutations. |
2008-08-12 |
2023-08-12 |
human |
| 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 |