-
1
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
-
DOI 10.1086/320609
-
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. Am J Hum Genet 68: 1327-1332. (Pubitemid 32510608)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.6
, pp. 1327-1332
-
-
Claes, L.1
Del-Favero, J.2
Ceulemans, B.3
Lagae, L.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
2
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
DOI 10.1038/74159
-
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A,. (2000) Mutations of SCN1A encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24: 343-345. (Pubitemid 30187430)
-
(2000)
Nature Genetics
, vol.24
, Issue.4
, pp. 343-345
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
Baulac, S.4
Huberfeld, G.5
An-Gourfinkel, I.6
Brice, A.7
LeGuern, E.8
Moulard, B.9
Chaigne, D.10
Buresi, C.11
Malafosse, A.12
-
3
-
-
0344672944
-
Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
-
DOI 10.1093/brain/awg053
-
Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y,. (2003) Mutations of sodium channel alpha type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126: 531-546. (Pubitemid 36240855)
-
(2003)
Brain
, vol.126
, Issue.3
, pp. 531-546
-
-
Fujiwara, T.1
Sugawara, T.2
Mazaki-Miyazaki, E.3
Takahashi, Y.4
Fukushima, K.5
Watanabe, M.6
Hara, K.7
Morikawa, T.8
Yagi, K.9
Yamakawa, K.10
Inoue, Y.11
-
4
-
-
0033588810
-
+ channel α-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain
-
DOI 10.1002/(SICI)1096-9861(19 990920)412:2<342::AID-CNE11>3.0. CO;2-2
-
+ channel α-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain. J Comp Neurol 412: 342-352. (Pubitemid 29395369)
-
(1999)
Journal of Comparative Neurology
, vol.412
, Issue.2
, pp. 342-352
-
-
Gong, B.1
Rhodes, K.J.2
Bekele-Arcuri, Z.3
Trimmer, J.S.4
-
5
-
-
0037071896
-
Molecular basis of an inherited epilepsy
-
DOI 10.1016/S0896-6273(02)00714-6
-
Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr,. (2002) Molecular basis of an inherited epilepsy. Neuron 34: 877-884. (Pubitemid 34722278)
-
(2002)
Neuron
, vol.34
, Issue.6
, pp. 877-884
-
-
Lossin, C.1
Wang, D.W.2
Rhodes, T.H.3
Vanoye, C.G.4
George Jr., A.L.5
-
6
-
-
33749678419
-
SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy
-
DOI 10.1111/j.1528-1167.2006.00645.x
-
Morimoto M, Mazaki E, Nishimura A, Chiyonobu T, Sawai Y, Murakami A, Nakamura K, Inoue I, Ogiwara I, Sugimoto T, Yamakawa K,. (2006) SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 47: 1732-1736. (Pubitemid 44556408)
-
(2006)
Epilepsia
, vol.47
, Issue.10
, pp. 1732-1736
-
-
Morimoto, M.1
Mazaki, E.2
Nishimura, A.3
Chiyonobu, T.4
Sawai, Y.5
Murakami, A.6
Nakamura, K.7
Inoue, I.8
Ogiwara, I.9
Sugimoto, T.10
Yamakawa, K.11
-
7
-
-
77954105482
-
Deletions of SCN1A 5â genomic region with promoter activity in Dravet syndrome
-
Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K,. (2010) Deletions of SCN1A 5â genomic region with promoter activity in Dravet syndrome. Hum Mutat 31: 820-829.
-
(2010)
Hum Mutat
, vol.31
, pp. 820-829
-
-
Nakayama, T.1
Ogiwara, I.2
Ito, K.3
Kaneda, M.4
Mazaki, E.5
Osaka, H.6
Ohtani, H.7
Inoue, Y.8
Fujiwara, T.9
Uematsu, M.10
Haginoya, K.11
Tsuchiya, S.12
Yamakawa, K.13
-
8
-
-
34249791771
-
v1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation
-
DOI 10.1523/JNEUROSCI.5270-06.2007
-
v1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 27: 5903-5914. (Pubitemid 46849766)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.22
, pp. 5903-5914
-
-
Ogiwara, I.1
Miyamoto, H.2
Morita, N.3
Atapour, N.4
Mazaki, E.5
Inoue, I.6
Takeuchi, T.7
Itohara, S.8
Yanagawa, Y.9
Obata, K.10
Furuichi, T.11
Hensch, T.K.12
Yamakawa, K.13
-
9
-
-
34249775767
-
Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation
-
DOI 10.1016/j.eplepsyres.2007.03.018, PII S0920121107001064
-
Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, Yamada M, Kurosawa K, Iwamoto H, Yasui-Furukori N, Kaneko S, Fujiwara T, Inoue Y, Yamakawa K,. (2007) Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Epilepsy Res 75: 46-51. (Pubitemid 46856118)
-
(2007)
Epilepsy Research
, vol.75
, Issue.1
, pp. 46-51
-
-
Osaka, H.1
Ogiwara, I.2
Mazaki, E.3
Okamura, N.4
Yamashita, S.5
Iai, M.6
Yamada, M.7
Kurosawa, K.8
Iwamoto, H.9
Yasui-Furukori, N.10
Kaneko, S.11
Fujiwara, T.12
Inoue, Y.13
Yamakawa, K.14
-
10
-
-
3342929286
-
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy
-
DOI 10.1073/pnas.0402482101
-
Rhodes TH, Lossin C, Vanoye CG, Wang DW, George AL Jr,. (2004) Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A 101: 11147-11152. (Pubitemid 38989598)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.30
, pp. 11147-11152
-
-
Rhodes, T.H.1
Lossin, C.2
Vanoye, C.G.3
Wang, D.W.4
George Jr., A.L.5
-
11
-
-
0035964102
-
v1.1 mutations cause febrile seizures associated with afebrile partial seizures
-
v1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 57: 703-705. (Pubitemid 32783003)
-
(2001)
Neurology
, vol.57
, Issue.4
, pp. 703-705
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Ito, M.3
Nagafuji, H.4
Fukuma, G.5
Mitsudome, A.6
Wada, K.7
Kaneko, S.8
Hirose, S.9
Yamakawa, K.10
-
12
-
-
0037046207
-
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K,. (2002) Frequent mutations of SCN1A severe myoclonic epilepsy in infancy. Neurology 58: 1122-1124. (Pubitemid 34298561)
-
(2002)
Neurology
, vol.58
, Issue.7
, pp. 1122-1124
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Fukushima, K.3
Shimomura, J.4
Fujiwara, T.5
Hamano, S.6
Inoue, Y.7
Yamakawa, K.8
-
13
-
-
0038771150
-
v1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents
-
DOI 10.1016/S0920-1211(03)00084-6
-
v1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res 54: 201-207. (Pubitemid 36776738)
-
(2003)
Epilepsy Research
, vol.54
, Issue.2-3
, pp. 201-207
-
-
Sugawara, T.1
Tsurubuchi, Y.2
Fujiwara, T.3
Mazaki-Miyazaki, E.4
Nagata, K.5
Montal, M.6
Inoue, Y.7
Yamakawa, K.8
-
14
-
-
13244271276
-
Epilepsy and sodium channel gene mutations: Gain or loss of function?
-
DOI 10.1097/00001756-200501190-00001
-
Yamakawa K,. (2005) Epilepsy and sodium channel gene mutations: gain or loss of function? Neuroreport 16: 1-3. (Pubitemid 40194548)
-
(2005)
NeuroReport
, vol.16
, Issue.1
, pp. 1-3
-
-
Yamakawa, K.1
-
15
-
-
33748115786
-
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
-
DOI 10.1038/nn1754, PII NN1754
-
Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA,. (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 9: 1142-1149. (Pubitemid 44306307)
-
(2006)
Nature Neuroscience
, vol.9
, Issue.9
, pp. 1142-1149
-
-
Yu, F.H.1
Mantegazza, M.2
Westenbroek, R.E.3
Robbins, C.A.4
Kalume, F.5
Burton, K.A.6
Spain, W.J.7
McKnight, G.S.8
Scheuer, T.9
Catterall, W.A.10
|