-
1
-
-
33745904714
-
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency
-
Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A. 2006. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med 12:846-851.
-
(2006)
Nat Med
, vol.12
, pp. 846-851
-
-
Almeida, A.M.1
Murakami, Y.2
Layton, D.M.3
Hillmen, P.4
Sellick, G.S.5
Maeda, Y.6
Richards, S.7
Patterson, S.8
Kotsianidis, I.9
Mollica, L.10
Crawford, D.H.11
Baker, A.12
Ferguson, M.13
Roberts, I.14
Houlston, R.15
Kinoshita, T.16
Karadimitris, A.17
-
2
-
-
12144285702
-
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
-
Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. 2004. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 55:550-557.
-
(2004)
Ann Neurol
, vol.55
, pp. 550-557
-
-
Berkovic, S.F.1
Heron, S.E.2
Giordano, L.3
Marini, C.4
Guerrini, R.5
Kaplan, R.E.6
Gambardella, A.7
Steinlein, O.K.8
Grinton, B.E.9
Dean, J.T.10
Bordo, L.11
Hodgson, B.L.12
Yamamoto, T.13
Mulley, J.C.14
Zara, F.15
Scheffer, I.E.16
-
3
-
-
0025739445
-
Regional and temporal expression of sodium channel messenger RNAs in the rat brain during development
-
Brysch W, Creutzfeldt OD, Luno K, Schlingensiepen R, Schlingensiepen KH. 1991. Regional and temporal expression of sodium channel messenger RNAs in the rat brain during development. Exp Brain Res 86:562-567.
-
(1991)
Exp Brain Res
, vol.86
, pp. 562-567
-
-
Brysch, W.1
Creutzfeldt, O.D.2
Luno, K.3
Schlingensiepen, R.4
Schlingensiepen, K.H.5
-
4
-
-
0033694833
-
From ionic currents to molecular mechanisms: The structure and function of voltage-gated sodium channels
-
Catterall WA. 2000. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron 26:13-25.
-
(2000)
Neuron
, vol.26
, pp. 13-25
-
-
Catterall, W.A.1
-
5
-
-
23044459961
-
-
Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AMJM, Pusch M, Strom TM. 2005. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet [North Am Ed] 366:371-377.
-
Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AMJM, Pusch M, Strom TM. 2005. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet [North Am Ed] 366:371-377.
-
-
-
-
6
-
-
12844252497
-
V1.6) with alternative 5′- and 3′-untranslated regions and initial characterization of the SCN8A promoter
-
V1.6) with alternative 5′- and 3′-untranslated regions and initial characterization of the SCN8A promoter. Genomics 85:245-257.
-
(2005)
Genomics
, vol.85
, pp. 245-257
-
-
Drews, V.L.1
Lieberman, A.P.2
Meisler, M.H.3
-
7
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
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.
-
(2000)
Nat Genet
, vol.24
, 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
-
8
-
-
0035071143
-
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy
-
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. 2001. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy. Am J Hum Genet 68:866-873.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 866-873
-
-
Escayg, A.1
Heils, A.2
MacDonald, B.T.3
Haug, K.4
Sander, T.5
Meisler, M.H.6
-
9
-
-
0042622245
-
Identi.cation of patterns in biological sequences at the ALGGEN server: PROMO and MALGEN
-
Farre D, Roset R, Huerta M, Adsuara JE, Rosello L, Alba MM, Messeguer X. 2003. Identi.cation of patterns in biological sequences at the ALGGEN server: PROMO and MALGEN. Nucleic Acids Res 31:3651-3653.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3651-3653
-
-
Farre, D.1
Roset, R.2
Huerta, M.3
Adsuara, J.E.4
Rosello, L.5
Alba, M.M.6
Messeguer, X.7
-
10
-
-
0033044832
-
Diversity of mammalian voltage-gated sodium channels
-
Goldin AL. 1999. Diversity of mammalian voltage-gated sodium channels. Ann N Y Acad Sci 868:38-50.
-
(1999)
Ann N Y Acad Sci
, vol.868
, pp. 38-50
-
-
Goldin, A.L.1
-
11
-
-
33947492770
-
Variations in the APP gene promoter region and risk of Alzheimer disease
-
Guyant-Marechal L, Rovelet-Lecrux A, Goumidi L, Cousin E, Hannequin D, Raux G, Penet C, Ricard S, Mace S, Amouyel P, Deleuze JF, Frebourg T, Brice A, Lambert JC, Campion D. 2007. Variations in the APP gene promoter region and risk of Alzheimer disease. Neurology 68:684-687.
-
(2007)
Neurology
, vol.68
, pp. 684-687
-
-
Guyant-Marechal, L.1
Rovelet-Lecrux, A.2
Goumidi, L.3
Cousin, E.4
Hannequin, D.5
Raux, G.6
Penet, C.7
Ricard, S.8
Mace, S.9
Amouyel, P.10
Deleuze, J.F.11
Frebourg, T.12
Brice, A.13
Lambert, J.C.14
Campion, D.15
-
12
-
-
0024437754
-
Nuclear factor ETF specifically stimulates transcription from promoters without a TATA box
-
Kageyama R, Merlino GT, Pastan I. 1989. Nuclear factor ETF specifically stimulates transcription from promoters without a TATA box. J Biol Chem 264:15508-15514.
-
(1989)
J Biol Chem
, vol.264
, pp. 15508-15514
-
-
Kageyama, R.1
Merlino, G.T.2
Pastan, I.3
-
13
-
-
0032426365
-
Isolation of the 5′-flanking region for human brain sodium channel subtype II alpha-subunit
-
Lu CM, Eichelberger JS, Beckman ML, Schade SD, Brown GB. 1998. Isolation of the 5′-flanking region for human brain sodium channel subtype II alpha-subunit. J Mol Neurosci 11:179-182.
-
(1998)
J Mol Neurosci
, vol.11
, pp. 179-182
-
-
Lu, C.M.1
Eichelberger, J.S.2
Beckman, M.L.3
Schade, S.D.4
Brown, G.B.5
-
14
-
-
18744405062
-
Corepressor-dependent silencing of chromosomal regions encoding neuronal genes
-
Lunyak VV, Burgess R, Prefontaine GG, Nelson C, Sze SH, Chenoweth J, Schwartz P, Pevzner PA, Glass C, Mandel G, Rosenfeld MG. 2002. Corepressor-dependent silencing of chromosomal regions encoding neuronal genes. Science 298:1747-1752.
-
(2002)
Science
, vol.298
, pp. 1747-1752
-
-
Lunyak, V.V.1
Burgess, R.2
Prefontaine, G.G.3
Nelson, C.4
Sze, S.H.5
Chenoweth, J.6
Schwartz, P.7
Pevzner, P.A.8
Glass, C.9
Mandel, G.10
Rosenfeld, M.G.11
-
15
-
-
0031896768
-
Structure and function of voltage-gated sodium channels
-
Marban E, Yamagishi T, Tomaselli GF. 1998. Structure and function of voltage-gated sodium channels. J Physiol 508:647-657.
-
(1998)
J Physiol
, vol.508
, pp. 647-657
-
-
Marban, E.1
Yamagishi, T.2
Tomaselli, G.F.3
-
16
-
-
34447092214
-
Characterization of 5′ untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences
-
Martin MS, Tang B, Ta N, Escayg A. 2007. Characterization of 5′ untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences. Genomics 90:225-235.
-
(2007)
Genomics
, vol.90
, pp. 225-235
-
-
Martin, M.S.1
Tang, B.2
Ta, N.3
Escayg, A.4
-
17
-
-
0025273145
-
Neuron-specific expression of the rat brain type II sodium channel gene is directed by upstream regulatory elements
-
Maue RA, Kraner SD, Goodman RH, Mandel G. 1990. Neuron-specific expression of the rat brain type II sodium channel gene is directed by upstream regulatory elements. Neuron 4:223-231.
-
(1990)
Neuron
, vol.4
, pp. 223-231
-
-
Maue, R.A.1
Kraner, S.D.2
Goodman, R.H.3
Mandel, G.4
-
18
-
-
23644439941
-
Sodium channel mutations in epilepsy and other neurological disorders
-
Meisler MH, Kearney JA. 2005. Sodium channel mutations in epilepsy and other neurological disorders. J Clin Invest 115:2010-2017.
-
(2005)
J Clin Invest
, vol.115
, pp. 2010-2017
-
-
Meisler, M.H.1
Kearney, J.A.2
-
19
-
-
0036190875
-
PROMO: Detection of known transcription regulatory elements using species-tailored searches
-
Messeguer X, Escudero R, Farre D, Nunez O, Martinez J, Alba MM. 2002. PROMO: detection of known transcription regulatory elements using species-tailored searches. Bioinformatics 18:333-334.
-
(2002)
Bioinformatics
, vol.18
, pp. 333-334
-
-
Messeguer, X.1
Escudero, R.2
Farre, D.3
Nunez, O.4
Martinez, J.5
Alba, M.M.6
-
20
-
-
0030723262
-
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation
-
Plenge RM, Hendrich BD, Schwartz C, Arena JF, Naumova A, Sapienza C, Winter RM, Willard HF. 1997. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet 17:353-356.
-
(1997)
Nat Genet
, vol.17
, pp. 353-356
-
-
Plenge, R.M.1
Hendrich, B.D.2
Schwartz, C.3
Arena, J.F.4
Naumova, A.5
Sapienza, C.6
Winter, R.M.7
Willard, H.F.8
-
21
-
-
0030293674
-
Neuronal-specific gene expression - the interaction of both positive and negative transcriptional regulators
-
Quinn JP. 1996. Neuronal-specific gene expression - the interaction of both positive and negative transcriptional regulators. Prog Neurobiol 50:363-379.
-
(1996)
Prog Neurobiol
, vol.50
, pp. 363-379
-
-
Quinn, J.P.1
-
22
-
-
0033534548
-
Control elements of muscarinic receptor gene expression
-
Saffen D, Mieda M, Okamura M, Haga T. 1999. Control elements of muscarinic receptor gene expression. Life Sci 64:479-486.
-
(1999)
Life Sci
, vol.64
, pp. 479-486
-
-
Saffen, D.1
Mieda, M.2
Okamura, M.3
Haga, T.4
-
23
-
-
0034734776
-
Identifying the promoter region of the human brain sodium channel subtype II gene (SCN2A)
-
Schade SD, Brown GB. 2000. Identifying the promoter region of the human brain sodium channel subtype II gene (SCN2A). Brain Res Mol Brain Res 81:187-190.
-
(2000)
Brain Res Mol Brain Res
, vol.81
, pp. 187-190
-
-
Schade, S.D.1
Brown, G.B.2
-
24
-
-
0034709207
-
Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system
-
Schaller KL, Caldwell JH. 2000. Developmental and regional expression of sodium channel isoform NaCh6 in the rat central nervous system. J Comp Neurol 420:84-97.
-
(2000)
J Comp Neurol
, vol.420
, pp. 84-97
-
-
Schaller, K.L.1
Caldwell, J.H.2
-
25
-
-
0028968802
-
The neuron-restrictive silencer factor (NRSF): A coordinate repressor of multiple neuron-speci.c genes
-
Schoenherr CJ, Anderson DJ. 1995. The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-speci.c genes. Science 267:1360-1363.
-
(1995)
Science
, vol.267
, pp. 1360-1363
-
-
Schoenherr, C.J.1
Anderson, D.J.2
-
26
-
-
12544259329
-
Tandem promoters and developmentally regulated 5′- and 3′-mRNA untranslated regions of the mouse Scn5a cardiac sodium channel
-
Shang LL, Dudley SC Jr. 2005. Tandem promoters and developmentally regulated 5′- and 3′-mRNA untranslated regions of the mouse Scn5a cardiac sodium channel. J Biol Chem 280:933-940.
-
(2005)
J Biol Chem
, vol.280
, pp. 933-940
-
-
Shang, L.L.1
Dudley Jr., S.C.2
-
27
-
-
0024557039
-
The "initiator" as a transcription control element
-
Smale ST, Baltimore D. 1989. The "initiator" as a transcription control element. Cell 57:103-113.
-
(1989)
Cell
, vol.57
, pp. 103-113
-
-
Smale, S.T.1
Baltimore, D.2
-
28
-
-
35548974876
-
A functional mutation in the LDLR promoter (-139C←G) in a patient with familial hypercholesterolemia
-
Smith AJ, Ahmed F, Nair D, Whittall R, Wang D, Taylor A, Norbury G, Humphries SE. 2007. A functional mutation in the LDLR promoter (-139C←G) in a patient with familial hypercholesterolemia. Eur J Hum Genet 15:1186-1189.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 1186-1189
-
-
Smith, A.J.1
Ahmed, F.2
Nair, D.3
Whittall, R.4
Wang, D.5
Taylor, A.6
Norbury, G.7
Humphries, S.E.8
-
29
-
-
33747881750
-
The general transcription machinery and general cofactors
-
Thomas MC, Chiang CM. 2006. The general transcription machinery and general cofactors. Crit Rev Biochem Mol Biol 41:105-178.
-
(2006)
Crit Rev Biochem Mol Biol
, vol.41
, pp. 105-178
-
-
Thomas, M.C.1
Chiang, C.M.2
-
30
-
-
34250652921
-
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: Genetic and functional studies [Mutation in Brief No. 957 online]
-
Vanmolkot KR, Babini E, de Vries B, Stam AH, Freilinger T, Terwindt GM, Norris L, Haan J, Frants RR, Ramadan NM, Ferrari MD, Pusch M, van den Maagdenberg AM, Dichgans M. 2007. The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies [Mutation in Brief No. 957 online]. Hum Mutat 28:522.
-
(2007)
Hum Mutat
, vol.28
, pp. 522
-
-
Vanmolkot, K.R.1
Babini, E.2
de Vries, B.3
Stam, A.H.4
Freilinger, T.5
Terwindt, G.M.6
Norris, L.7
Haan, J.8
Frants, R.R.9
Ramadan, N.M.10
Ferrari, M.D.11
Pusch, M.12
van den Maagdenberg, A.M.13
Dichgans, M.14
-
31
-
-
0042384619
-
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
-
Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE. 2003. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 61:765-769.
-
(2003)
Neurology
, vol.61
, pp. 765-769
-
-
Wallace, R.H.1
Hodgson, B.L.2
Grinton, B.E.3
Gardiner, R.M.4
Robinson, R.5
Rodriguez-Casero, V.6
Sadleir, L.7
Morgan, J.8
Harkin, L.A.9
Dibbens, L.M.10
Yamamoto, T.11
Andermann, E.12
Mulley, J.C.13
Berkovic, S.F.14
Scheffer, I.E.15
-
32
-
-
0037222315
-
Sodium channels SCN1A, SCN2A and SCN3A in familial autism
-
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. 2003. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry 8:186-194.
-
(2003)
Mol Psychiatry
, vol.8
, pp. 186-194
-
-
Weiss, L.A.1
Escayg, A.2
Kearney, J.A.3
Trudeau, M.4
MacDonald, B.T.5
Mori, M.6
Reichert, J.7
Buxbaum, J.D.8
Meisler, M.H.9
-
33
-
-
0034686371
-
Distribution of voltage-gated sodium channel alpha-subunit and beta-subunit mRNAs in human hippocampal formation, cortex, and cerebellum
-
Whitaker WR, Clare JJ, Powell AJ, Chen YH, Faull RL, Emson PC. 2000. Distribution of voltage-gated sodium channel alpha-subunit and beta-subunit mRNAs in human hippocampal formation, cortex, and cerebellum. J Comp Neurol 422:123-139.
-
(2000)
J Comp Neurol
, vol.422
, pp. 123-139
-
-
Whitaker, W.R.1
Clare, J.J.2
Powell, A.J.3
Chen, Y.H.4
Faull, R.L.5
Emson, P.C.6
-
34
-
-
0035977980
-
Comparative distribution of voltage-gated sodium channel proteins in human brain
-
Whitaker WR, Faull RL, Waldvogel HJ, Plumpton CJ, Emson PC, Clare JJ. 2001. Comparative distribution of voltage-gated sodium channel proteins in human brain. Brain Res Mol Brain Res 88:37-53.
-
(2001)
Brain Res Mol Brain Res
, vol.88
, pp. 37-53
-
-
Whitaker, W.R.1
Faull, R.L.2
Waldvogel, H.J.3
Plumpton, C.J.4
Emson, P.C.5
Clare, J.J.6
-
35
-
-
0037264170
-
Overview of the voltage-gated sodium channel family
-
Yu FH, Catterall WA. 2003. Overview of the voltage-gated sodium channel family. Genome Biol 4:207.
-
(2003)
Genome Biol
, vol.4
, pp. 207
-
-
Yu, F.H.1
Catterall, W.A.2
|