| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Iori Ohmori, Kristopher M Kahlig, Thomas H Rhodes, Dao W Wang, Alfred L Georg. Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia. vol 47. issue 10. 2006-12-12. PMID:17054685. |
nonfunctional scn1a is common in severe myoclonic epilepsy of infancy. |
2006-12-12 |
2023-08-12 |
human |
| Iori Ohmori, Kristopher M Kahlig, Thomas H Rhodes, Dao W Wang, Alfred L Georg. Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia. vol 47. issue 10. 2006-12-12. PMID:17054685. |
mutations in scn1a, encoding the human na(v)1.1 neuronal voltage-gated sodium channel, cause the syndrome of severe myoclonic epilepsy of infancy (smei). |
2006-12-12 |
2023-08-12 |
human |
| Masafumi Morimoto, Emi Mazaki, Akira Nishimura, Tomohiro Chiyonobu, Yasuko Sawai, Aki Murakami, Keiko Nakamura, Ikuyo Inoue, Ikuo Ogiwara, Tohru Sugimoto, Kazuhiro Yamakaw. SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia. vol 47. issue 10. 2006-12-12. PMID:17054696. |
scn1a mutation mosaicism in a family with severe myoclonic epilepsy in infancy. |
2006-12-12 |
2023-08-12 |
Not clear |
| Carla Marini, Davide Mei, J Helen Cross, Renzo Guerrin. Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia. vol 47. issue 10. 2006-12-12. PMID:17054697. |
mosaic scn1a mutation in familial severe myoclonic epilepsy of infancy. |
2006-12-12 |
2023-08-12 |
Not clear |
| Carla Marini, Davide Mei, J Helen Cross, Renzo Guerrin. Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia. vol 47. issue 10. 2006-12-12. PMID:17054697. |
mutations of the alpha1 subunit sodium channel gene (scn1a) cause severe myoclonic epilepsy of infancy (smei). |
2006-12-12 |
2023-08-12 |
Not clear |
| Kristopher M Kahlig, Sunita N Misra, Alfred L Georg. Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 26. issue 43. 2006-11-24. PMID:17065438. |
mutations in scn1a (encoding the neuronal voltage-gated sodium channel alpha1 subunit, na(v)1.1, or scn1a) are associated with genetic epilepsy syndromes including generalized epilepsy with febrile seizures plus (gefs+) and severe myoclonic epilepsy of infancy. |
2006-11-24 |
2023-08-12 |
Not clear |
| Kristopher M Kahlig, Sunita N Misra, Alfred L Georg. Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 26. issue 43. 2006-11-24. PMID:17065438. |
these results provide a deeper level of understanding of mutant scn1a dysfunction in an inherited epilepsy syndrome, which will enable more precise computational studies of abnormal neuronal activity in epilepsy and may help guide new targeted therapeutic strategies. |
2006-11-24 |
2023-08-12 |
Not clear |
| F Madia, P Striano, E Gennaro, M Malacarne, R Paravidino, R Biancheri, M Budetta, M R Cilio, R Gaggero, M Pierluigi, C Minetti, F Zar. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology. vol 67. issue 7. 2006-11-08. PMID:17030758. |
cryptic chromosome deletions involving scn1a in severe myoclonic epilepsy of infancy. |
2006-11-08 |
2023-08-12 |
Not clear |
| F Madia, P Striano, E Gennaro, M Malacarne, R Paravidino, R Biancheri, M Budetta, M R Cilio, R Gaggero, M Pierluigi, C Minetti, F Zar. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology. vol 67. issue 7. 2006-11-08. PMID:17030758. |
to identify cryptic chromosomal deletions involving scn1a in patients with severe myoclonic epilepsy of infancy (smei). |
2006-11-08 |
2023-08-12 |
Not clear |
| Tateki Fujiwar. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy research. vol 70 Suppl 1. 2006-10-26. PMID:16806826. |
clinical spectrum of mutations in scn1a gene: severe myoclonic epilepsy in infancy and related epilepsies. |
2006-10-26 |
2023-08-12 |
Not clear |
| Tateki Fujiwar. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy research. vol 70 Suppl 1. 2006-10-26. PMID:16806826. |
recently, mutations of the neuronal voltage-gated sodium channel alphasubunit type 1 gene (scn1a) have been found in smei [claes, l., del-favero, j., ceulemans, b., lagae, l., van broeckhoven, c., de jonghe, p., 2001, de novo mutations in the sodium-channel gene scn1a cause severe myoclonic epilepsy of infancy. |
2006-10-26 |
2023-08-12 |
Not clear |
| Tateki Fujiwar. Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy research. vol 70 Suppl 1. 2006-10-26. PMID:16806826. |
the clinical spectrum of epilepsies harboring scn1a mutations may be consisted of various phenotypes with gefs+ on the mildest end and smei on the severest end of the spectrum. |
2006-10-26 |
2023-08-12 |
Not clear |
| Kazuhiro Yamakaw. Na channel gene mutations in epilepsy--the functional consequences. Epilepsy research. vol 70 Suppl 1. 2006-10-26. PMID:16806834. |
mutations of voltage-gated sodium channel genes scn1a, scn2a, and scn1b have been identified in several types of epilepsies including generalized epilepsy with febrile seizures plus (gefs+) and severe myoclonic epilepsy in infancy (smei). |
2006-10-26 |
2023-08-12 |
Not clear |
| Kazuhiro Yamakaw. Na channel gene mutations in epilepsy--the functional consequences. Epilepsy research. vol 70 Suppl 1. 2006-10-26. PMID:16806834. |
in both scn1a and scn2a, missense mutations tend to result in benign idiopathic epilepsy, whereas truncation mutations lead to severe and intractable epilepsy. |
2006-10-26 |
2023-08-12 |
Not clear |
| M Ito, K Yamakawa, T Sugawara, S Hirose, G Fukuma, S Kanek. Phenotypes and genotypes in epilepsy with febrile seizures plus. Epilepsy research. vol 70 Suppl 1. 2006-10-26. PMID:16884893. |
in the last several years, mutations of sodium channel genes, scn1a, scn2a, and scn1b, and gaba(a) receptor gene, gabrg2 were identified as causes of some febrile seizures related epilepsies. |
2006-10-26 |
2023-08-12 |
Not clear |
| M Ito, K Yamakawa, T Sugawara, S Hirose, G Fukuma, S Kanek. Phenotypes and genotypes in epilepsy with febrile seizures plus. Epilepsy research. vol 70 Suppl 1. 2006-10-26. PMID:16884893. |
in 19 unrelated japanese families whose probands had febrile seizures plus or epilepsy following febrile seizures plus, we identified 2 missense mutations of scn1a to be responsible for the seizure phenotypes in two fs+ families and another mutation of scn2a in one family. |
2006-10-26 |
2023-08-12 |
Not clear |
| J C Mulley, P Nelson, S Guerrero, L Dibbens, X Iona, J M McMahon, L Harkin, J Schouten, S Yu, S F Berkovic, I E Scheffe. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology. vol 67. issue 6. 2006-10-11. PMID:17000989. |
a new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in scn1a. |
2006-10-11 |
2023-08-12 |
Not clear |
| J C Mulley, P Nelson, S Guerrero, L Dibbens, X Iona, J M McMahon, L Harkin, J Schouten, S Yu, S F Berkovic, I E Scheffe. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology. vol 67. issue 6. 2006-10-11. PMID:17000989. |
we examined cases of severe myoclonic epilepsy of infancy (smei) for exon deletions or duplications within the sodium channel scn1a gene by multiplex ligation-dependent probe amplification. |
2006-10-11 |
2023-08-12 |
Not clear |
| Samuel F Berkovic, Louise Harkin, Jacinta M McMahon, James T Pelekanos, Sameer M Zuberi, Elaine C Wirrell, Deepak S Gill, Xenia Iona, John C Mulley, Ingrid E Scheffe. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. The Lancet. Neurology. vol 5. issue 6. 2006-07-13. PMID:16713920. |
we postulated that cases of so-called vaccine encephalopathy could have mutations in the neuronal sodium channel alpha1 subunit gene (scn1a) because of a clinical resemblance to severe myoclonic epilepsy of infancy (smei) for which such mutations have been identified. |
2006-07-13 |
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. |
recurrent de novo mutations of scn1a in severe myoclonic epilepsy of infancy. |
2006-05-18 |
2023-08-12 |
Not clear |