-
1
-
-
44849144752
-
The three stages of epilepsy in patients with CDKL5 mutations
-
DOI 10.1111/j.1528-1167.2007.01520.x
-
Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gerard M, Giuliano F, Motte J, Heron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T,. (2008a) The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 49: 1027-1037. (Pubitemid 351793996)
-
(2008)
Epilepsia
, vol.49
, Issue.6
, pp. 1027-1037
-
-
Bahi-Buisson, N.1
Kaminska, A.2
Boddaert, N.3
Rio, M.4
Afenjar, A.5
Gerard, M.6
Giuliano, F.7
Motte, J.8
Heron, D.9
Morel, M.A.N.10
Plouin, P.11
Richelme, C.12
Des Portes, V.13
Dulac, O.14
Philippe, C.15
Chiron, C.16
Nabbout, R.17
Bienvenu, T.18
-
2
-
-
54949090865
-
Key clinical features to identify girls with CDKL5 mutations
-
Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Heron D, N'Guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T,. (2008b) Key clinical features to identify girls with CDKL5 mutations. Brain 131: 2647-2661.
-
(2008)
Brain
, vol.131
, pp. 2647-2661
-
-
Bahi-Buisson, N.1
Nectoux, J.2
Rosas-Vargas, H.3
Milh, M.4
Boddaert, N.5
Girard, B.6
Cances, C.7
Ville, D.8
Afenjar, A.9
Rio, M.10
Heron, D.11
N'Guyen Morel, M.A.12
Arzimanoglou, A.13
Philippe, C.14
Jonveaux, P.15
Chelly, J.16
Bienvenu, T.17
-
3
-
-
77950857874
-
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
-
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshe SL, Nordli D, Plouin P, Scheffer IE,. (2010) Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 51: 676-685.
-
(2010)
Epilepsia
, vol.51
, pp. 676-685
-
-
Berg, A.T.1
Berkovic, S.F.2
Brodie, M.J.3
Buchhalter, J.4
Cross, J.H.5
Van Emde Boas, W.6
Engel, J.7
French, J.8
Glauser, T.A.9
Mathern, G.W.10
Moshe, S.L.11
Nordli, D.12
Plouin, P.13
Scheffer, I.E.14
-
4
-
-
78650456921
-
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
-
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E,. (2011) Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat 32: E1959-E1975.
-
(2011)
Hum Mutat
, vol.32
-
-
Depienne, C.1
Trouillard, O.2
Bouteiller, D.3
Gourfinkel-An, I.4
Poirier, K.5
Rivier, F.6
Berquin, P.7
Nabbout, R.8
Chaigne, D.9
Steschenko, D.10
Gautier, A.11
Hoffman-Zacharska, D.12
Lannuzel, A.13
Lackmy-Port-Lis, M.14
Maurey, H.15
Dusser, A.16
Bru, M.17
Gilbert-Dussardier, B.18
Roubertie, A.19
Kaminska, A.20
Whalen, S.21
Mignot, C.22
Baulac, S.23
Lesca, G.24
Arzimanoglou, A.25
Leguern, E.26
more..
-
5
-
-
77957945296
-
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP mutations
-
Deprez L, Weckhuysen S, Holmgren P, Suls A, Van DyckT, 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 STXBP 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, D.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
-
6
-
-
78049329316
-
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
-
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K,. (2010) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42: 1021-1026.
-
(2010)
Nat Genet
, vol.42
, pp. 1021-1026
-
-
Endele, S.1
Rosenberger, G.2
Geider, K.3
Popp, B.4
Tamer, C.5
Stefanova, I.6
Milh, M.7
Kortum, F.8
Fritsch, A.9
Pientka, F.K.10
Hellenbroich, Y.11
Kalscheuer, V.M.12
Kohlhase, J.13
Moog, U.14
Rappold, G.15
Rauch, A.16
Ropers, H.H.17
Von Spiczak, S.18
Tonnies, H.19
Villeneuve, N.20
Villard, L.21
Zabel, B.22
Zenker, M.23
Laube, B.24
Reis, A.25
Wieczorek, D.26
Van Maldergem, L.27
Kutsche, K.28
more..
-
7
-
-
51749100843
-
Conformational switch of syntaxin-1 controls synaptic vesicle fusion
-
Gerber SH, Rah JC, Min SW, Liu X, de Wit H, Dulubova I, Meyer AC, Rizo J, Arancillo M, Hammer RE, Verhage M, Rosenmund C, Sudhof TC,. (2008) Conformational switch of syntaxin-1 controls synaptic vesicle fusion. Science 321: 1507-1510.
-
(2008)
Science
, vol.321
, pp. 1507-1510
-
-
Gerber, S.H.1
Rah, J.C.2
Min, S.W.3
Liu, X.4
De Wit, H.5
Dulubova, I.6
Meyer, A.C.7
Rizo, J.8
Arancillo, M.9
Hammer, R.E.10
Verhage, M.11
Rosenmund, C.12
Sudhof, T.C.13
-
8
-
-
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
-
9
-
-
70350176449
-
Mutational spectrum of CDKL5 in early-onset encephalopathies: A study of a large collection of French patients and review of the literature
-
Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'Guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C,. (2009) Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clin Genet 76: 357-371.
-
(2009)
Clin Genet
, vol.76
, pp. 357-371
-
-
Nemos, C.1
Lambert, L.2
Giuliano, F.3
Doray, B.4
Roubertie, A.5
Goldenberg, A.6
Delobel, B.7
Layet, V.8
N'Guyen, M.A.9
Saunier, A.10
Verneau, F.11
Jonveaux, P.12
Philippe, C.13
-
10
-
-
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, Imai K, Tachikawa E, Shimojima K, Osawa M, Yamamoto T,. (2010) STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-result of Japanese cohort study. Epilepsia 51: 2449-2452.
-
(2010)
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
Imai, K.7
Tachikawa, E.8
Shimojima, K.9
Osawa, M.10
Yamamoto, T.11
-
11
-
-
37749019135
-
Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature
-
Pintaudi M, Baglietto MG, Gaggero R, Parodi E, Pessagno A, Marchi M, Russo S, Veneselli E,. (2008) Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Epilepsy Behav 12: 326-331.
-
(2008)
Epilepsy Behav
, vol.12
, pp. 326-331
-
-
Pintaudi, M.1
Baglietto, M.G.2
Gaggero, R.3
Parodi, E.4
Pessagno, A.5
Marchi, M.6
Russo, S.7
Veneselli, E.8
-
12
-
-
34249689155
-
Functionally and spatially distinct modes of munc18-syntaxin 1 interaction
-
DOI 10.1074/jbc.M700227200
-
Rickman C, Medine CN, Bergmann A, Duncan RR,. (2007) Functionally and spatially distinct modes of munc18-syntaxin 1 interaction. J Biol Chem 282: 12097-12103. (Pubitemid 47100701)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.16
, pp. 12097-12103
-
-
Rickman, C.1
Medine, C.N.2
Bergmann, A.3
Duncan, R.R.4
-
13
-
-
44349096827
-
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
-
DOI 10.1038/ng.150, PII NG150
-
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. (Pubitemid 351748868)
-
(2008)
Nature Genetics
, vol.40
, Issue.6
, 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.-I.13
Kumada, T.14
Hayasaka, K.15
Fukuda, A.16
Ogata, K.17
Matsumoto, N.18
-
14
-
-
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,. (2010a) 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..
-
15
-
-
80053567951
-
Paternal mosaicism of an STXBP1 mutation in OS
-
Published online: 7 October 2010; doi.
-
Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N,. (2010b) Paternal mosaicism of an STXBP1 mutation in OS. Clin Genet Published online: 7 October 2010; doi:.
-
(2010)
Clin Genet
-
-
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
-
16
-
-
33845987734
-
Selective activation of cognate SNAREpins by Sec1/Munc18 proteins
-
DOI 10.1016/j.cell.2006.12.016, PII S0092867406016102
-
Shen J, Tareste DC, Paumet F, Rothman JE, Melia TJ,. (2007) Selective activation of cognate SNAREpins by Sec1/Munc18 proteins. Cell 128: 183-195. (Pubitemid 46048894)
-
(2007)
Cell
, vol.128
, Issue.1
, pp. 183-195
-
-
Shen, J.1
Tareste, D.C.2
Paumet, F.3
Rothman, J.E.4
Melia, T.J.5
-
17
-
-
33845348602
-
Munc18-1 expression level control synapse recovery by regulating readily releasable pool size
-
DOI 10.1073/pnas.0608507103
-
Toonen RF, Wierda K, Sons MS, de Wit H, Cornelisse LN, Brussaard A, Plomp JJ, Verhage M,. (2006) Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size. Proc Natl Acad Sci U S A 103: 18332-18337. (Pubitemid 44871658)
-
(2006)
Proceedings of the National Academy of Sciences of the United States of America
, vol.103
, Issue.48
, pp. 18332-18337
-
-
Toonen, R.F.G.1
Wierda, K.2
Sons, M.S.3
De Wit, H.4
Cornelisse, L.N.5
Brussaard, A.6
Plomp, J.J.7
Verhage, M.8
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