-
1
-
-
16044370232
-
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
-
Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87:543-52.
-
(1996)
Cell.
, vol.87
, pp. 543-552
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
Van Eijk, R.4
Oefner, P.J.5
Hoffman, S.M.6
-
2
-
-
0035115339
-
Missense CACNA1A mutation causing episodic ataxia type 2
-
Denier C, Ducros A, Durr A, Eymard B, Chassande B, Tournier-Lasserve E, et al. Missense CACNA1A mutation causing episodic ataxia type 2. Arch Neurol. 2001;58:292-5.
-
(2001)
Arch Neurol.
, vol.58
, pp. 292-295
-
-
Denier, C.1
Ducros, A.2
Durr, A.3
Eymard, B.4
Chassande, B.5
Tournier-Lasserve, E.6
-
3
-
-
85050142135
-
CaV2.1 channelopathies
-
Pietrobon D. CaV2.1 channelopathies. Pflugers Arch. 2010;460:375-93.
-
(2010)
Pflugers Arch.
, vol.460
, pp. 375-393
-
-
Pietrobon, D.1
-
4
-
-
79960115251
-
The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine
-
Gallanti A, Cardin V, Tonelli A, Bussone G, Bresolin N, Mariani C et al. The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine. Neurol Sci. 2011;32 Suppl 1:S141-2.
-
(2011)
Neurol Sci.
, vol.32
, pp. S141-S142
-
-
Gallanti, A.1
Cardin, V.2
Tonelli, A.3
Bussone, G.4
Bresolin, N.5
Mariani, C.6
-
5
-
-
23044459961
-
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
-
Dichgans M, Freilinger T, Eckstein BE, Babini E, Lorenz-Depiereux B, Biskup S et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. 2005;366:371-7.
-
(2005)
Lancet
, vol.366
, pp. 371-377
-
-
Dichgans, M.1
Freilinger, T.2
Eckstein, B.E.3
Babini, E.4
Lorenz-Depiereux, B.5
Biskup, S.6
-
6
-
-
23644439941
-
Sodium channel mutations in epilepsy and other neurological disorders
-
Meisler MH, Kearney JA. Sodium channel mutations in epilepsy and other neurological disorders. J Clin Investig. 2005;115:2010-7.
-
(2005)
J Clin Investig.
, vol.115
, pp. 2010-2017
-
-
Meisler, M.H.1
Kearney, J.A.2
-
7
-
-
77957812064
-
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura
-
Lafrenière RG, Cader MZ, Poulin JF, Andres-Enguix I, Simoneau M, Gupta N et al. A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura. Nat Med. 2010;16:1157-60.
-
(2010)
Nat Med.
, vol.16
, pp. 1157-1160
-
-
Lafrenière, R.G.1
Cader, M.Z.2
Poulin, J.F.3
Andres-Enguix, I.4
Simoneau, M.5
Gupta, N.6
-
8
-
-
35448942208
-
Serotonin and migraine: Biology and clinical implications
-
Hamel E. Serotonin and migraine: biology and clinical implications. Cephalalgia. 2007;27:1293-300.
-
(2007)
Cephalalgia.
, vol.27
, pp. 1293-1300
-
-
Hamel, E.1
-
9
-
-
84859595411
-
Genetics of migraine in the age of genome-wide association studies
-
Schürks M. Genetics of migraine in the age of genome-wide association studies. J Headache Pain. 2012;13:1-9.
-
(2012)
J Headache Pain.
, vol.13
, pp. 1-9
-
-
Schürks, M.1
-
10
-
-
63249107479
-
New genetic evidence for involvement of the dopamine system in migraine with aura
-
Todt U, Netzer C, Toliat M. New genetic evidence for involvement of the dopamine system in migraine with aura. Hum Genet. 2009;125:265-79.
-
(2009)
Hum Genet.
, vol.125
, pp. 265-279
-
-
Todt, U.1
Netzer, C.2
Toliat, M.3
-
11
-
-
84881022482
-
Genome-wide metaanalysis identifies new susceptibility loci for migraine
-
North American Brain Expression Consortium, UK Brain Expression Consortium, International Headache Genetics Consortium
-
Anttila V, Winsvold BS, Gormley P, Kurth T, Bettella F, McMahon G, North American Brain Expression Consortium, UK Brain Expression Consortium, International Headache Genetics Consortium, et al. Genome-wide metaanalysis identifies new susceptibility loci for migraine. Nat Genet. 2013;45: 912-7.
-
(2013)
Nat Genet.
, vol.45
, pp. 912-917
-
-
Anttila, V.1
Winsvold, B.S.2
Gormley, P.3
Kurth, T.4
Bettella, F.5
McMahon, G.6
-
12
-
-
0025857522
-
-
Style Matters: Statements from the Vancouver Group.
-
Style Matters: Statements from the Vancouver Group. http://dx.doi.org/10. 1136/bmj.302.6786.1194. BMJ 1991; 302:1194.
-
(1991)
BMJ
, vol.302
, pp. 1194
-
-
-
13
-
-
84929244266
-
The International Classification of Headache Disorders, 3rd edition (beta version) Part one: The primary headaches
-
The International Classification of Headache Disorders, 3rd edition (beta version) Part one: the primary headaches. Cephalalgia 2013;33(9):644-658.
-
(2013)
Cephalalgia
, vol.33
, Issue.9
, pp. 644-658
-
-
-
14
-
-
84878799611
-
Predicting functional effect of human missense mutations using PolyPhen-2
-
Chapter 7:Unit7.20
-
Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. In: Curr Protoc Hum Genet, Chapter 7:Unit7.20. 2013.
-
(2013)
Curr Protoc Hum Genet
-
-
Adzhubei, I.1
Jordan, D.M.2
Sunyaev, S.R.3
-
15
-
-
84930619194
-
PROVEAN web server: A tool to predict the functional effect of amino acid substitutions and indels
-
Choi Y, Chan AP. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics. 2015; 31(16):2745-7.
-
(2015)
Bioinformatics.
, vol.31
, Issue.16
, pp. 2745-2747
-
-
Choi, Y.1
Chan, A.P.2
-
16
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4:1073-81.
-
(2009)
Nat Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
18
-
-
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 et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS + 2. Nat Genet. 2000;24(4):343-5.
-
(2000)
Nat Genet.
, 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
-
19
-
-
17344392533
-
Epidemiology of vascular headache and migraine in the population of Warsaw
-
Witkowska-Olearska K. Epidemiology of vascular headache and migraine in the population of Warsaw. Neurol Neurochir Pol. 1975;9:495-502.
-
(1975)
Neurol Neurochir Pol.
, vol.9
, pp. 495-502
-
-
Witkowska-Olearska, K.1
-
20
-
-
0031697992
-
Migraine awareness, treatment, and education in Poland
-
Szczudlik A. Migraine awareness, treatment, and education in Poland. Cephalalgia. 1998;18:65-6.
-
(1998)
Cephalalgia.
, vol.18
, pp. 65-66
-
-
Szczudlik, A.1
-
21
-
-
65249130529
-
Elicited repetitive daily blindness: A new phenotype associated with hemiplegic migraine and SCN1A mutations
-
Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, Trouillard O et al. Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology. 2009;72:1178-83.
-
(2009)
Neurology.
, vol.72
, pp. 1178-1183
-
-
Vahedi, K.1
Depienne, C.2
Le Fort, D.3
Riant, F.4
Chaine, P.5
Trouillard, O.6
-
22
-
-
84909633098
-
Two novel SCN1A mutations identified in families with familial hemiplegic migraine
-
Weller CM, Pelzer N, de Vries B, López MA, De Fàbregues O, Pascual J, et al. Two novel SCN1A mutations identified in families with familial hemiplegic migraine. Cephalalgia. 2014;34:1062-9.
-
(2014)
Cephalalgia.
, vol.34
, pp. 1062-1069
-
-
Weller, C.M.1
Pelzer, N.2
De Vries, B.3
López, M.A.4
De Fàbregues, O.5
Pascual, J.6
-
23
-
-
33751108977
-
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation
-
Kahlig KM, Misra SN, George Jr AL. Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. J Neurosci. 2006;26:10958-66.
-
(2006)
J Neurosci.
, vol.26
, pp. 10958-10966
-
-
Kahlig, K.M.1
Misra, S.N.2
George, A.L.3
-
24
-
-
84859748645
-
Functional analysis of missense variants in the TRESK (KCNK18) K channel
-
Andres-Enguix I, Shang L, Stansfeld PJ, Morahan JM, Sansom MS, Lafrenière RG et al. Functional analysis of missense variants in the TRESK (KCNK18) K channel. Sci Rep. 2012;2:237.
-
(2012)
Sci Rep.
, vol.2
, pp. 237
-
-
Andres-Enguix, I.1
Shang, L.2
Stansfeld, P.J.3
Morahan, J.M.4
Sansom, M.S.5
Lafrenière, R.G.6
-
25
-
-
84964247878
-
KCNK18 (TRESK) genetic variants in Italian patients with migraine
-
Rainero I, Rubino E, Gallone S, Zavarise P, Carli D, Boschi S et al. KCNK18 (TRESK) genetic variants in Italian patients with migraine. Headache. 2014;54: 1515-22.
-
(2014)
Headache.
, vol.54
, pp. 1515-1522
-
-
Rainero, I.1
Rubino, E.2
Gallone, S.3
Zavarise, P.4
Carli, D.5
Boschi, S.6
-
26
-
-
0037264170
-
Overview of the voltage-gated sodium channel family
-
Yu FH, Catterall WA. Overview of the voltage-gated sodium channel family. Genome Biol. 2003;4:207.
-
(2003)
Genome Biol.
, vol.4
, pp. 207
-
-
Yu, F.H.1
Catterall, W.A.2
-
27
-
-
0036227627
-
Occurrence of factor v Leiden mutation (Arg506Gln) and anticardiolipin antibodies in migraine patients
-
Intiso D, Crociani P, Fogli D, Grandone E, Cappucci G, Di Rienzo F et al. Occurrence of factor V Leiden mutation (Arg506Gln) and anticardiolipin antibodies in migraine patients. Neurol Sci. 2002;22:455-8.
-
(2002)
Neurol Sci.
, vol.22
, pp. 455-458
-
-
Intiso, D.1
Crociani, P.2
Fogli, D.3
Grandone, E.4
Cappucci, G.5
Di Rienzo, F.6
-
28
-
-
0032407464
-
Frequency of factor v Leiden in juvenile migraine with aura
-
Soriani S, Borgna-Pignatti C, Trabetti E, Casartelli A, Montagna P, Pignatti PF et al. Frequency of factor V Leiden in juvenile migraine with aura. Headache. 1998;38:779-81.
-
(1998)
Headache.
, vol.38
, pp. 779-781
-
-
Soriani, S.1
Borgna-Pignatti, C.2
Trabetti, E.3
Casartelli, A.4
Montagna, P.5
Pignatti, P.F.6
-
29
-
-
84857211318
-
Na channel β subunits: Overachievers of the ion channel family
-
Brackenbury WJ, Isom LL. Na channel β subunits: overachievers of the ion channel family. Front Pharmacol. 2011;28(2):53.
-
(2011)
Front Pharmacol.
, vol.28
, Issue.2
, pp. 53
-
-
Brackenbury, W.J.1
Isom, L.L.2
|