| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Iori Ohmori, Mamoru Ouchida, Yoko Ohtsuka, Eiji Oka, Kenji Shimiz. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochemical and biophysical research communications. vol 295. issue 1. 2002-08-09. PMID:12083760. |
significant correlation of the scn1a mutations and severe myoclonic epilepsy in infancy. |
2002-08-09 |
2023-08-12 |
Not clear |
| Iori Ohmori, Mamoru Ouchida, Yoko Ohtsuka, Eiji Oka, Kenji Shimiz. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochemical and biophysical research communications. vol 295. issue 1. 2002-08-09. PMID:12083760. |
to investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel alpha1-subunit (scn1a) gene, beta1-subunit (scn1b) gene, and gamma-aminobutyric acid(a) receptor gamma2-subunit (gabrg2) gene in dnas from peripheral blood cells of 29 patients with severe myoclonic epilepsy in infancy (sme) and 11 patients with other types of epilepsy. |
2002-08-09 |
2023-08-12 |
Not clear |
| Iori Ohmori, Mamoru Ouchida, Yoko Ohtsuka, Eiji Oka, Kenji Shimiz. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochemical and biophysical research communications. vol 295. issue 1. 2002-08-09. PMID:12083760. |
mutations of the scn1a gene were detected in 24 of the 29 patients (82.7%) with sme, although none with other types of epilepsy. |
2002-08-09 |
2023-08-12 |
Not clear |
| Stephen C Canno. Sodium channel gating: no margin for error. Neuron. vol 34. issue 6. 2002-07-22. PMID:12086630. |
lossin and colleagues from al george's lab report in this issue of neuron that three missense mutations of scn1a found in a dominant epilepsy syndrome disrupt inactivation, thereby producing small persistent inward na(+) currents that may result in hyperexcitability and seizures. |
2002-07-22 |
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 |
| Michela Malacarne, Francesca Madia, Elena Gennaro, Daniela Vacca, A Ilter Güney, Salvatore Buono, Bernardo Dalla Bernardina, Roberto Gaggero, Giuseppe Gobbi, Maria Luisa Lispi, Daniela Malamaci, Giustino Melideo, Maurizio Roccella, Caterina Sferro, Alessandra Tiberti, Francesca Vanadia, Federico Vigevano, Franco Viri, Maria Rosa Vitali, Franca Dagna Bricarelli, Amedeo Bianchi, Federico Zar. Lack of SCN1A mutations in familial febrile seizures. Epilepsia. vol 43. issue 5. 2002-06-21. PMID:12027919. |
mutations in the voltage-gated sodium channel subunit gene scn1a have been associated with febrile seizures (fss) in autosomal dominant generalized epilepsy with febrile seizures plus (gefs+) families and severe myoclonic epilepsy of infancy. |
2002-06-21 |
2023-08-12 |
Not clear |
| T Sugawara, E Mazaki-Miyazaki, K Fukushima, J Shimomura, T Fujiwara, S Hamano, Y Inoue, K Yamakaw. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology. vol 58. issue 7. 2002-05-07. PMID:11940708. |
frequent mutations of scn1a in severe myoclonic epilepsy in infancy. |
2002-05-07 |
2023-08-12 |
Not clear |
| T Sugawara, E Mazaki-Miyazaki, K Fukushima, J Shimomura, T Fujiwara, S Hamano, Y Inoue, K Yamakaw. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology. vol 58. issue 7. 2002-05-07. PMID:11940708. |
mutations in the neuronal voltage-gated sodium channel alpha-subunit type i gene (scn1a) were found responsible for severe myoclonic epilepsy in infancy (smei). |
2002-05-07 |
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. |
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 H Meisler, J Kearney, R Ottman, A Escay. Identification of epilepsy genes in human and mouse. Annual review of genetics. vol 35. 2002-01-15. PMID:11700294. |
haploinsufficiency for the sodium channel scn1a has been demonstrated by the severe infantile epilepsy and cognitive deficits in heterozygotes for de novo null mutations. |
2002-01-15 |
2023-08-12 |
mouse |
| H Lerche, K Jurkat-Rott, F Lehmann-Hor. Ion channels and epilepsy. American journal of medical genetics. vol 106. issue 2. 2001-12-04. PMID:11579435. |
an increasing number of epileptic syndromes belongs to this group of rare disorders: autosomal dominant nocturnal frontal lobe epilepsy is caused by mutations in a neuronal nicotinic acetylcholine receptor (affected genes: chrna4, chrnb2), benign familial neonatal convulsions by mutations in potassium channels constituting the m-current (kcnq2, kcnq3), generalized epilepsy with febrile seizures plus by mutations in subunits of the voltage-gated sodium channel or the gaba(a) receptor (scn1b, scn1a, gabrg2), and episodic ataxia type 1-which is associated with epilepsy in a few patients--by mutations within another voltage-gated potassium channel (kcna1). |
2001-12-04 |
2023-08-12 |
Not clear |
| L Claes, J Del-Favero, B Ceulemans, L Lagae, C Van Broeckhoven, P De Jongh. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. American journal of human genetics. vol 68. issue 6. 2001-07-05. PMID:11359211. |
de novo mutations in the sodium-channel gene scn1a cause severe myoclonic epilepsy of infancy. |
2001-07-05 |
2023-08-12 |
Not clear |
| A Escayg, A Heils, B T MacDonald, K Haug, T Sander, M H Meisle. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. American journal of human genetics. vol 68. issue 4. 2001-05-10. PMID:11254445. |
a novel scn1a mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. |
2001-05-10 |
2023-08-12 |
Not clear |