| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Silke Appenzeller, Ingo Helbig, Ulrich Stephani, Martin Häusler, Gerhard Kluger, May Bungeroth, Stefanie Müller, Gregor Kuhlenbäumer, Andreas van Baale. Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Developmental medicine and child neurology. vol 54. issue 12. 2013-02-07. PMID:23066759. |
fires shares several phenotypic features with epilepsies seen in patients with protocadherin 19 (pcdh19), sodium channel protein type 1 subunit alpha (scn1a), and dna polymerase subunit gamma-1 (polg) mutations. |
2013-02-07 |
2023-08-12 |
Not clear |
| A Brunklaus, R Ellis, E Reavey, G H Forbes, S M Zuber. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain : a journal of neurology. vol 135. issue Pt 8. 2012-10-17. PMID:22719002. |
dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene scn1a. |
2012-10-17 |
2023-08-12 |
Not clear |
| Gregory L Holmes, Alex C Bender, Edie X Wu, Rod C Scott, Pierre Pascal Lenck-Santini, Richard P Mors. Maturation of EEG oscillations in children with sodium channel mutations. Brain & development. vol 34. issue 6. 2012-10-12. PMID:21940124. |
the majority of children with ds carry mutations of the gene scn1a, which codes for the alpha subunit of the type 1 voltage-gated sodium channel and is important for the function of interneurons. |
2012-10-12 |
2023-08-12 |
Not clear |
| Nicola Specchio, Martina Balestri, Marina Trivisano, Natia Japaridze, Pasquale Striano, Antonio Carotenuto, Simona Cappelletti, Luigi M Specchio, Lucia Fusco, Federico Vigevan. Electroencephalographic features in dravet syndrome: five-year follow-up study in 22 patients. Journal of child neurology. vol 27. issue 4. 2012-08-01. PMID:22019839. |
electroencephalogram findings seemed to be age dependent, variable among different patients, and not influenced by the presence of sodium channel, voltage-gated, type i, alpha subunit (scn1a) mutation. |
2012-08-01 |
2023-08-12 |
Not clear |
| Brian D Moseley, Elaine C Wirrell, Katherine Nickel. Generalized periodic epileptiform discharges in a child with Dravet syndrome. Journal of child neurology. vol 26. issue 7. 2012-05-14. PMID:21335542. |
the child was subsequently found to have a de novo mutation of the sodium channel, voltage-gated, type i, alpha subunit (scn1a) gene consistent with dravet syndrome. |
2012-05-14 |
2023-08-12 |
Not clear |
| 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 |