| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jennifer A Kearney, Anna K Wiste, Ulrich Stephani, Michelle M Trudeau, Anne Siegel, Rajesh RamachandranNair, Roy D Elterman, Hiltrud Muhle, Juliane Reinsdorf, W Donald Shields, Miriam H Meisler, Andrew Escay. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatric neurology. vol 34. issue 2. 2006-05-18. PMID:16458823. |
mutations in the voltage-gated sodium channel gene scn1a are a major cause of severe myoclonic epilepsy of infancy (dravet syndrome) and generalized epilepsy with febrile seizures plus. |
2006-05-18 |
2023-08-12 |
Not clear |
| Jennifer A Kearney, Anna K Wiste, Ulrich Stephani, Michelle M Trudeau, Anne Siegel, Rajesh RamachandranNair, Roy D Elterman, Hiltrud Muhle, Juliane Reinsdorf, W Donald Shields, Miriam H Meisler, Andrew Escay. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatric neurology. vol 34. issue 2. 2006-05-18. PMID:16458823. |
this study reports the identification of six de novo scn1a mutations in patients with severe myoclonic epilepsy of infancy, including a tetranucleotide deletion in exon 26. |
2006-05-18 |
2023-08-12 |
Not clear |
| Jennifer A Kearney, Anna K Wiste, Ulrich Stephani, Michelle M Trudeau, Anne Siegel, Rajesh RamachandranNair, Roy D Elterman, Hiltrud Muhle, Juliane Reinsdorf, W Donald Shields, Miriam H Meisler, Andrew Escay. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatric neurology. vol 34. issue 2. 2006-05-18. PMID:16458823. |
review of the literature indicates that recurrent mutations account for 25% of scn1a mutations in severe myoclonic epilepsy of infancy, including six sites of deamination at cpg dinucleotides. |
2006-05-18 |
2023-08-12 |
Not clear |
| Elena Gennaro, Filippo M Santorelli, Enrico Bertini, Daniela Buti, Roberto Gaggero, Giuseppe Gobbi, Marcella Lini, Tiziana Granata, Elena Freri, Antonia Parmeggiani, Pasquale Striano, Pierangelo Veggiotti, Simona Cardinali, Franca Dagna Bricarelli, Carlo Minetti, Federico Zar. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochemical and biophysical research communications. vol 341. issue 2. 2006-04-18. PMID:16430863. |
severe myoclonic epilepsy in infancy (smei) is an intractable epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the scn1a gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel. |
2006-04-18 |
2023-08-12 |
Not clear |
| Arthur J Barela, Salina P Waddy, Jay G Lickfett, Jessica Hunter, Aimee Anido, Sandra L Helmers, Alan L Goldin, Andrew Escay. An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 26. issue 10. 2006-04-13. PMID:16525050. |
an epilepsy mutation in the sodium channel scn1a that decreases channel excitability. |
2006-04-13 |
2023-08-12 |
rat |
| Carlos G Vanoye, Christoph Lossin, Thomas H Rhodes, Alfred L Georg. Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy. The Journal of general physiology. vol 127. issue 1. 2006-03-24. PMID:16380441. |
the majority of mutations (>100) associated with generalized epilepsy with febrile seizures plus (gefs+) and severe myoclonic epilepsy of infancy (smei) occur in scn1a encoding the nav1.1 neuronal sodium channel alpha-subunit. |
2006-03-24 |
2023-08-12 |
human |
| S Buoni, A Orrico, L Galli, R Zannolli, L Burroni, J Hayek, A Fois, V Sorrentin. SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. Neurology. vol 66. issue 4. 2006-03-20. PMID:16505326. |
scn1a (2528delg) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy. |
2006-03-20 |
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 |
| 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. |
several missense scn1a mutations have been identified in probands affected by the syndrome of intractable childhood epilepsy with generalized tonic-clonic seizures (icegtc), which bears similarity to smei. |
2006-02-16 |
2023-08-12 |
human |
| Mark Gardine. Genetics of idiopathic generalized epilepsies. Epilepsia. vol 46 Suppl 9. 2005-12-09. PMID:16302872. |
these include benign familial neonatal convulsions due to mutations in kcnq2 or kcnq3, generalized epilepsy with febrile seizures plus due to mutations in scn1a, scn2a, scn1b, and gabrg2, autosomal-dominant juvenile myoclonic epilepsy (jme) due to a mutation in gabra1 and mutations in clcn2 associated with several ige sub-types. |
2005-12-09 |
2023-08-12 |
Not clear |
| 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. |
a missense mutation in scn1a in brothers with severe myoclonic epilepsy in infancy (smei) inherited from a father with febrile seizures. |
2005-11-10 |
2023-08-12 |
Not clear |
| Miriam H Meisler, Jennifer A Kearne. Sodium channel mutations in epilepsy and other neurological disorders. The Journal of clinical investigation. vol 115. issue 8. 2005-10-11. PMID:16075041. |
since the first mutations of the neuronal sodium channel scn1a were identified 5 years ago, more than 150 mutations have been described in patients with epilepsy. |
2005-10-11 |
2023-08-12 |
Not clear |
| K Ebach, H Joos, H Doose, U Stephani, G Kurlemann, B Fiedler, A Hahn, E Hauser, K Hundt, H Holthausen, U Müller, B A Neubaue. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics. vol 36. issue 3. 2005-09-29. PMID:15944908. |
scn1a mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. |
2005-09-29 |
2023-08-12 |
Not clear |
| K Ebach, H Joos, H Doose, U Stephani, G Kurlemann, B Fiedler, A Hahn, E Hauser, K Hundt, H Holthausen, U Müller, B A Neubaue. SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics. vol 36. issue 3. 2005-09-29. PMID:15944908. |
we analyzed the scn1a gene in 20 patients with non-familial myoclonic astatic epilepsy -- including 12 probands of the original cohort used by doose et al. |
2005-09-29 |
2023-08-12 |
Not clear |
| J Spampanato, J A Kearney, G de Haan, D P McEwen, A Escayg, I Aradi, B T MacDonald, S I Levin, I Soltesz, P Benna, E Montalenti, L L Isom, A L Goldin, M H Meisle. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 24. issue 44. 2005-06-09. PMID:15525788. |
a novel epilepsy mutation in the sodium channel scn1a identifies a cytoplasmic domain for beta subunit interaction. |
2005-06-09 |
2023-08-12 |
Not clear |
| Kazuhiro Yamakaw. Epilepsy and sodium channel gene mutations: gain or loss of function? Neuroreport. vol 16. issue 1. 2005-04-14. PMID:15618878. |
mutations in voltage-gated sodium channel genes (scn1a, scn2a, scn1b) have been reported to be responsible for some epilepsies. |
2005-04-14 |
2023-08-12 |
Not clear |
| Kazuhiro Yamakaw. [Molecular genetics of epilepsy]. Rinsho shinkeigaku = Clinical neurology. vol 44. issue 11. 2005-03-04. PMID:15651314. |
mutations of voltage-gated sodium channel genes scn1a and scn2a have been reported in epilepsies with a variety of phenotypes including generalized epilepsy with febrile seizures plus (gefs +), severe myoclonic epilepsy in infancy (smei), intractable childhood epilepsy with generalized tonic-clonic seizures (icegtc), and benign familial neonatal-infantile seizures (bfnis). |
2005-03-04 |
2023-08-12 |
mouse |
| K Kanai, S Hirose, H Oguni, G Fukuma, Y Shirasaka, T Miyajima, K Wada, H Iwasa, S Yasumoto, M Matsuo, M Ito, A Mitsudome, S Kanek. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology. vol 63. issue 2. 2005-01-14. PMID:15277629. |
effect of localization of missense mutations in scn1a on epilepsy phenotype severity. |
2005-01-14 |
2023-08-12 |
Not clear |
| K Kanai, S Hirose, H Oguni, G Fukuma, Y Shirasaka, T Miyajima, K Wada, H Iwasa, S Yasumoto, M Matsuo, M Ito, A Mitsudome, S Kanek. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology. vol 63. issue 2. 2005-01-14. PMID:15277629. |
many missense mutations in the voltage-gated sodium channel subunit gene scn1a were identified in patients with generalized epilepsy with febrile seizures plus (gefs+) and severe myoclonic epilepsy of infancy (smei), although gefs+ is distinct from smei in terms of clinical symptoms, severity, prognosis, and responses to antiepileptic drugs. |
2005-01-14 |
2023-08-12 |
Not clear |
| Hirokazu Oguni, Kitami Hayashi, Makiko Osawa, Yutaka Awaya, Yukio Fukuyama, Goryu Fukuma, Shinichi Hirose, Akihisa Mitsudome, Sunao Kanek. Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort. Advances in neurology. vol 95. 2004-12-27. PMID:15508916. |
severe myoclonic epilepsy in infancy: clinical analysis and relation to scn1a mutations in a japanese cohort. |
2004-12-27 |
2023-08-12 |
Not clear |