-
1
-
-
33846994397
-
Two novel epilepsy-linked mutations leading to a loss of function of LGI1
-
Chabrol E., Popescu C., Gourfinkel-An I., Trouillard O., Depienne C., Senechal K., Baulac M., LeGuern E., and Baulac S. Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Arch. Neurol. 64 (2007) 217-222
-
(2007)
Arch. Neurol.
, vol.64
, pp. 217-222
-
-
Chabrol, E.1
Popescu, C.2
Gourfinkel-An, I.3
Trouillard, O.4
Depienne, C.5
Senechal, K.6
Baulac, M.7
LeGuern, E.8
Baulac, S.9
-
2
-
-
0037157099
-
The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new family of leucine-rich repeat proteins
-
Gu W., Wevers A., Schröder H., Grzeschik k.H., derst C., Brodtkorb E., de Vos R., and Steinlein O.K. The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new family of leucine-rich repeat proteins. FEBS Lett. 519 (2002) 71-76
-
(2002)
FEBS Lett.
, vol.519
, pp. 71-76
-
-
Gu, W.1
Wevers, A.2
Schröder, H.3
Grzeschik, k.H.4
derst, C.5
Brodtkorb, E.6
de Vos, R.7
Steinlein, O.K.8
-
3
-
-
1542409182
-
Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene
-
Hedera P., Abou-Khalil B., Crunk A.E., Taylor K.A., Haines J.L., and Sutcliffe J.S. Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene. Epilepsia 45 (2004) 218-222
-
(2004)
Epilepsia
, vol.45
, pp. 218-222
-
-
Hedera, P.1
Abou-Khalil, B.2
Crunk, A.E.3
Taylor, K.A.4
Haines, J.L.5
Sutcliffe, J.S.6
-
4
-
-
18544376557
-
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
-
Kalachikov S., Evgrafov O., Ross B., Winawer M., Barker-Cummings C., Martinelli Boneschi F., Choi C., Morozov P., Das K., Teplitskaya E., Yu A., Cayanis E., Penchaszadeh G., Kottmann A.H., Pedley T.A., Hauser W.A., Ottman R., and Gilliam T.C. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat. Genet. 30 (2002) 335-341
-
(2002)
Nat. Genet.
, vol.30
, pp. 335-341
-
-
Kalachikov, S.1
Evgrafov, O.2
Ross, B.3
Winawer, M.4
Barker-Cummings, C.5
Martinelli Boneschi, F.6
Choi, C.7
Morozov, P.8
Das, K.9
Teplitskaya, E.10
Yu, A.11
Cayanis, E.12
Penchaszadeh, G.13
Kottmann, A.H.14
Pedley, T.A.15
Hauser, W.A.16
Ottman, R.17
Gilliam, T.C.18
-
5
-
-
0142136078
-
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new Epitempin mutations, and genetic heterogeneity in seven European families
-
Michelucci R., Poza J.J., Sofia V., de Feo M.R., Binelli S., Bisulli F., Scudellaro E., Simionati B., Zimbello R., D'Orsi G., Passarelli D., Avoni P., Avanzini G., Tinuper P., Biondi R., Valle G., Mautner V.F., Stephani U., Tassinari C.A., Moschonas N.K., Siebert R., Lopez de Munain A., Perez-Tur J., and Nobile C. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new Epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia 44 (2003) 1289-1297
-
(2003)
Epilepsia
, vol.44
, pp. 1289-1297
-
-
Michelucci, R.1
Poza, J.J.2
Sofia, V.3
de Feo, M.R.4
Binelli, S.5
Bisulli, F.6
Scudellaro, E.7
Simionati, B.8
Zimbello, R.9
D'Orsi, G.10
Passarelli, D.11
Avoni, P.12
Avanzini, G.13
Tinuper, P.14
Biondi, R.15
Valle, G.16
Mautner, V.F.17
Stephani, U.18
Tassinari, C.A.19
Moschonas, N.K.20
Siebert, R.21
Lopez de Munain, A.22
Perez-Tur, J.23
Nobile, C.24
more..
-
6
-
-
34250376339
-
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures
-
Michelucci R., Mecarelli O., Bovo G., Bisulli F., Testoni S., Striano P., Striano S., Tinuper P., and Nobile C. A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. Neurology 68 (2007) 2150-2151
-
(2007)
Neurology
, vol.68
, pp. 2150-2151
-
-
Michelucci, R.1
Mecarelli, O.2
Bovo, G.3
Bisulli, F.4
Testoni, S.5
Striano, P.6
Striano, S.7
Tinuper, P.8
Nobile, C.9
-
7
-
-
0029059069
-
Localization of a gene for partial epilepsy to chromosome 10q
-
Ottman R., Risch N., Hauser W.A., Pedley T.A., Lee J.H., Barker-Cummings C., Lustenberger A., Nagle K.J., Lee K.S., Scheuer M.L., Nagle K.J., Lee K.S., Scheuer M.L., Nystat M., Susser M., and Wilhelmsen K.C. Localization of a gene for partial epilepsy to chromosome 10q. Nat. Genet. 10 (1995) 56-60
-
(1995)
Nat. Genet.
, vol.10
, pp. 56-60
-
-
Ottman, R.1
Risch, N.2
Hauser, W.A.3
Pedley, T.A.4
Lee, J.H.5
Barker-Cummings, C.6
Lustenberger, A.7
Nagle, K.J.8
Lee, K.S.9
Scheuer, M.L.10
Nagle, K.J.11
Lee, K.S.12
Scheuer, M.L.13
Nystat, M.14
Susser, M.15
Wilhelmsen, K.C.16
-
8
-
-
1842580632
-
LGI1 mutations in autosomal dominant partial epilepsy with auditory features
-
Ottman R., Winawer M.R., Kalachikov S., Barker-Cummings C., Gilliam T.C., Pedley T.A., and Hauser W.A. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 62 (2004) 1120-1126
-
(2004)
Neurology
, vol.62
, pp. 1120-1126
-
-
Ottman, R.1
Winawer, M.R.2
Kalachikov, S.3
Barker-Cummings, C.4
Gilliam, T.C.5
Pedley, T.A.6
Hauser, W.A.7
-
9
-
-
13144257672
-
Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation
-
Pisano T., Marini C., Brovedani P., Brizzolara D., Pruna D., Mei D., Moro F., Cianchetti C., and Guerrini R. Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation. Epilepsia 46 (2005) 118-123
-
(2005)
Epilepsia
, vol.46
, pp. 118-123
-
-
Pisano, T.1
Marini, C.2
Brovedani, P.3
Brizzolara, D.4
Pruna, D.5
Mei, D.6
Moro, F.7
Cianchetti, C.8
Guerrini, R.9
-
10
-
-
54749083120
-
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features
-
Rosanoff M.J., and Ottman R. Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 71 (2008) 567-571
-
(2008)
Neurology
, vol.71
, pp. 567-571
-
-
Rosanoff, M.J.1
Ottman, R.2
-
11
-
-
0037098957
-
A common protein interaction domain links two recently identified epilepsy genes
-
Scheel H., Tomiuk S., and Hofmann K. A common protein interaction domain links two recently identified epilepsy genes. Hum. Mol. Genet. 11 (2002) 1757-1762
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1757-1762
-
-
Scheel, H.1
Tomiuk, S.2
Hofmann, K.3
-
12
-
-
33344456574
-
The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1
-
Schulte U., Thumfart J.O., Klöcker N., Sailer C.A., Bildl W., Biniossek M., Dehn D., Deller T., Eble S., Abbass K., Wangler T., Knaus H.G., and Fakler B. The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. Neuron 49 (2006) 697-706
-
(2006)
Neuron
, vol.49
, pp. 697-706
-
-
Schulte, U.1
Thumfart, J.O.2
Klöcker, N.3
Sailer, C.A.4
Bildl, W.5
Biniossek, M.6
Dehn, D.7
Deller, T.8
Eble, S.9
Abbass, K.10
Wangler, T.11
Knaus, H.G.12
Fakler, B.13
-
13
-
-
21244505337
-
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy
-
Senechal K.R., Thaller C., and Noebels J.L. ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum. Mol. Genet. 14 (2005) 1613-1620
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1613-1620
-
-
Senechal, K.R.1
Thaller, C.2
Noebels, J.L.3
-
14
-
-
33751355664
-
The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface
-
Sirerol-Piquer M.S., Ayerdi-Izquierdo A., Morante-Redolat J.M., Herranz-Pérez V., Favell K., Barker P.A., and Pérez-Tur J. The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface. Hum. Mol. Genet. 15 (2006) 3436-3445
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 3436-3445
-
-
Sirerol-Piquer, M.S.1
Ayerdi-Izquierdo, A.2
Morante-Redolat, J.M.3
Herranz-Pérez, V.4
Favell, K.5
Barker, P.A.6
Pérez-Tur, J.7
-
15
-
-
0035974897
-
A novel gene causing a mendelian audiogenic mouse epilepsy
-
Skradski S.L., Clark A.M., Jiang H., White H.S., Fu Y.H., and Ptácek L.J. A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron 31 (2001) 537-544
-
(2001)
Neuron
, vol.31
, pp. 537-544
-
-
Skradski, S.L.1
Clark, A.M.2
Jiang, H.3
White, H.S.4
Fu, Y.H.5
Ptácek, L.J.6
-
16
-
-
47549096259
-
A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy
-
Striano P., de Falco A., Diani E., Bovo G., Furlan S., Vitiello L., Pinardi F., Striano S., Michelucci R., de Falco F.A., and Nobile C. A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. Arch. Neurol. 65 (2008) 939-942
-
(2008)
Arch. Neurol.
, vol.65
, pp. 939-942
-
-
Striano, P.1
de Falco, A.2
Diani, E.3
Bovo, G.4
Furlan, S.5
Vitiello, L.6
Pinardi, F.7
Striano, S.8
Michelucci, R.9
de Falco, F.A.10
Nobile, C.11
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