-
1
-
-
78651274775
-
The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission
-
Blumcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, Jacques TS, Avanzini G, Barkovich AJ, Battaglia G, Becker A, Cepeda C, Cendes F, Colombo N, Crino P, Cross JH, Delalande O, Dubeau F, Duncan J, Guerrini R, Kahane P, Mathern G, Najm I, Ozkara C, Raybaud C, Represa A, Roper SN, Salamon N, Schulze-Bonhage A, Tassi L, Vezzani A, Spreafico R,. (2011) The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 52: 158-174.
-
(2011)
Epilepsia
, vol.52
, pp. 158-174
-
-
Blumcke, I.1
Thom, M.2
Aronica, E.3
Armstrong, D.D.4
Vinters, H.V.5
Palmini, A.6
Jacques, T.S.7
Avanzini, G.8
Barkovich, A.J.9
Battaglia, G.10
Becker, A.11
Cepeda, C.12
Cendes, F.13
Colombo, N.14
Crino, P.15
Cross, J.H.16
Delalande, O.17
Dubeau, F.18
Duncan, J.19
Guerrini, R.20
Kahane, P.21
Mathern, G.22
Najm, I.23
Ozkara, C.24
Raybaud, C.25
Represa, A.26
Roper, S.N.27
Salamon, N.28
Schulze-Bonhage, A.29
Tassi, L.30
Vezzani, A.31
Spreafico, R.32
more..
-
2
-
-
77957945296
-
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
-
Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, De Jonghe P,. (2010) Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology 75: 1159-1165.
-
(2010)
Neurology
, vol.75
, pp. 1159-1165
-
-
Deprez, L.1
Weckhuysen, S.2
Holmgren, P.3
Suls, A.4
Van Dyck, T.5
Goossens, D.6
Del-Favero, J.7
Jansen, A.8
Verhaert, K.9
Lagae, L.10
Jordanova, A.11
Van Coster, R.12
Yendle, S.13
Berkovic, S.F.14
Scheffer, I.15
Ceulemans, B.16
De Jonghe, P.17
-
3
-
-
67650090920
-
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
-
Hamdan FF, Piton A, Gauthier J, Lortie A, Dubeau F, Dobrzeniecka S, Spiegelman D, Noreau A, Pellerin S, Cote M, Henrion E, Fombonne E, Mottron L, Marineau C, Drapeau P, Lafreniere RG, Lacaille JC, Rouleau GA, Michaud JL,. (2009) De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann Neurol 65: 748-753.
-
(2009)
Ann Neurol
, vol.65
, pp. 748-753
-
-
Hamdan, F.F.1
Piton, A.2
Gauthier, J.3
Lortie, A.4
Dubeau, F.5
Dobrzeniecka, S.6
Spiegelman, D.7
Noreau, A.8
Pellerin, S.9
Cote, M.10
Henrion, E.11
Fombonne, E.12
Mottron, L.13
Marineau, C.14
Drapeau, P.15
Lafreniere, R.G.16
Lacaille, J.C.17
Rouleau, G.A.18
Michaud, J.L.19
-
4
-
-
79955785104
-
Intellectual disability without epilepsy associated with STXBP1 disruption
-
Hamdan FF, Gauthier J, Dobrzeniecka S, Lortie A, Mottron L, Vanasse M, D'Anjou G, Lacaille JC, Rouleau GA, Michaud JL,. (2011) Intellectual disability without epilepsy associated with STXBP1 disruption. Eur J Hum Genet 19: 607-609.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 607-609
-
-
Hamdan, F.F.1
Gauthier, J.2
Dobrzeniecka, S.3
Lortie, A.4
Mottron, L.5
Vanasse, M.6
D'Anjou, G.7
Lacaille, J.C.8
Rouleau, G.A.9
Michaud, J.L.10
-
5
-
-
0027364502
-
Synaptic vesicle fusion complex contains unc-18 homologue bound to syntaxin
-
Hata Y, Slaughter CA, Sudhof TC,. (1993) Synaptic vesicle fusion complex contains unc-18 homologue bound to syntaxin. Nature 366: 347-351.
-
(1993)
Nature
, vol.366
, pp. 347-351
-
-
Hata, Y.1
Slaughter, C.A.2
Sudhof, T.C.3
-
6
-
-
80053564430
-
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients
-
Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, Jacquette A, Arveiler B, Morice-Picard F, Lacombe D, Chiron C, Ville D, Charles P, LeGuern E, Depienne C, Heron D,. (2011) STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 52: 1820-1827.
-
(2011)
Epilepsia
, vol.52
, pp. 1820-1827
-
-
Mignot, C.1
Moutard, M.L.2
Trouillard, O.3
Gourfinkel-An, I.4
Jacquette, A.5
Arveiler, B.6
Morice-Picard, F.7
Lacombe, D.8
Chiron, C.9
Ville, D.10
Charles, P.11
Leguern, E.12
Depienne, C.13
Heron, D.14
-
7
-
-
80053563169
-
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
-
Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L,. (2011) Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. Epilepsia 52: 1828-1834.
-
(2011)
Epilepsia
, vol.52
, pp. 1828-1834
-
-
Milh, M.1
Villeneuve, N.2
Chouchane, M.3
Kaminska, A.4
Laroche, C.5
Barthez, M.A.6
Gitiaux, C.7
Bartoli, C.8
Borges-Correia, A.9
Cacciagli, P.10
Mignon-Ravix, C.11
Cuberos, H.12
Chabrol, B.13
Villard, L.14
-
8
-
-
78650017215
-
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-result of Japanese cohort study
-
Otsuka M, Oguni H, Liang JS, Ikeda H, Imai K, Hirasawa K, Tachikawa E, Shimojima K, Osawa M, Yamamoto T,. (2011) STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-result of Japanese cohort study. Epilepsia 51: 2449-2452.
-
(2011)
Epilepsia
, vol.51
, pp. 2449-2452
-
-
Otsuka, M.1
Oguni, H.2
Liang, J.S.3
Ikeda, H.4
Imai, K.5
Hirasawa, K.6
Tachikawa, E.7
Shimojima, K.8
Osawa, M.9
Yamamoto, T.10
-
9
-
-
44349096827
-
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
-
Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N,. (2008) De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 40: 782-788.
-
(2008)
Nat Genet
, vol.40
, pp. 782-788
-
-
Saitsu, H.1
Kato, M.2
Mizuguchi, T.3
Hamada, K.4
Osaka, H.5
Tohyama, J.6
Uruno, K.7
Kumada, S.8
Nishiyama, K.9
Nishimura, A.10
Okada, I.11
Yoshimura, Y.12
Hirai, S.13
Kumada, T.14
Hayasaka, K.15
Fukuda, A.16
Ogata, K.17
Matsumoto, N.18
-
10
-
-
80053529047
-
Paternal mosaicism of an STXBP1 mutation in OS
-
Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N,. (2010a) Paternal mosaicism of an STXBP1 mutation in OS. Clin Genet 80: 484-488.
-
(2010)
Clin Genet
, vol.80
, pp. 484-488
-
-
Saitsu, H.1
Hoshino, H.2
Kato, M.3
Nishiyama, K.4
Okada, I.5
Yoneda, Y.6
Tsurusaki, Y.7
Doi, H.8
Miyake, N.9
Kubota, M.10
Hayasaka, K.11
Matsumoto, N.12
-
11
-
-
78650006703
-
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern
-
Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Wada T, Osaka H, Kondo N, Hayasaka K, Matsumoto N,. (2010b) STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 51: 2397-2405.
-
(2010)
Epilepsia
, vol.51
, pp. 2397-2405
-
-
Saitsu, H.1
Kato, M.2
Okada, I.3
Orii, K.E.4
Higuchi, T.5
Hoshino, H.6
Kubota, M.7
Arai, H.8
Tagawa, T.9
Kimura, S.10
Sudo, A.11
Miyama, S.12
Takami, Y.13
Watanabe, T.14
Nishimura, A.15
Nishiyama, K.16
Miyake, N.17
Wada, T.18
Osaka, H.19
Kondo, N.20
Hayasaka, K.21
Matsumoto, N.22
more..
-
12
-
-
0034603030
-
Synaptic assembly of the brain in the absence of neurotransmitter secretion
-
Verhage M, Maia AS, Plomp JJ, Brussaard AB, Heeroma JH, Vermeer H, Toonen RF, Hammer RE, van den Berg TK, Missler M, Geuze HJ, Sudhof TC,. (2000) Synaptic assembly of the brain in the absence of neurotransmitter secretion. Science 287: 864-869.
-
(2000)
Science
, vol.287
, pp. 864-869
-
-
Verhage, M.1
Maia, A.S.2
Plomp, J.J.3
Brussaard, A.B.4
Heeroma, J.H.5
Vermeer, H.6
Toonen, R.F.7
Hammer, R.E.8
Van Den Berg, T.K.9
Missler, M.10
Geuze, H.J.11
Sudhof, T.C.12
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