-
1
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE Task Force on Classification and Terminology
-
Engel J Jr. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001;42(6):796-803.
-
(2001)
Epilepsia
, vol.42
, Issue.6
, pp. 796-803
-
-
Engel Jr., J.1
-
2
-
-
33748676917
-
Report of the ILAE classification core group
-
Engel J Jr. Report of the ILAE classification core group. Epilepsia 2006;47(9):1558-68.
-
(2006)
Epilepsia
, vol.47
, Issue.9
, pp. 1558-1568
-
-
Engel Jr., J.1
-
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, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010;51(4):676-85.
-
(2010)
Epilepsia
, vol.51
, Issue.4
, pp. 676-685
-
-
Berg, A.T.1
Berkovic, S.F.2
Brodie, M.J.3
Buchhalter, J.4
-
4
-
-
10144230336
-
Epilepsia en flexión generalizada en niños con trisomía 21 (mongolismo). Premio "Bernardo E. Sas" otorgado por la Sociedad Argentina de Pediatría
-
De Coriat LF, Fejerman N. Epilepsia en flexión generalizada en niños con trisomía 21 (mongolismo). Premio "Bernardo E. Sas" otorgado por la Sociedad Argentina de Pediatría. La Semana Médica 1969. Págs.493-500.
-
(1969)
La Semana Médica
, pp. 493-500
-
-
De Coriat, L.F.1
Fejerman, N.2
-
5
-
-
84868094731
-
Down Syndrome
-
Shorvon SD, Andermann F, Guerrini R (eds.) Cambridge: Cambridge Medicine
-
Bahi-Buisson N, Eisermann M, Dulac O. Down Syndrome. En: Shorvon SD, Andermann F, Guerrini R (eds.) The causes of Epilepsy. Cambridge: Cambridge Medicine; 2011. Págs.265-71.
-
(2011)
The Causes of Epilepsy
, pp. 265-271
-
-
Bahi-Buisson, N.1
Eisermann, M.2
Dulac, O.3
-
6
-
-
85013587711
-
Infantile spasms in Down syndrome: A good response to vitamin B6
-
Caraballo R, Cersósimo R, Garro F, Kessler K, et al. Infantile spasms in Down syndrome: A good response to vitamin B6. J Pediatr Neurol 2004;2(1):15-9.
-
(2004)
J Pediatr Neurol
, vol.2
, Issue.1
, pp. 15-19
-
-
Caraballo, R.1
Cersósimo, R.2
Garro, F.3
Kessler, K.4
-
8
-
-
39749180472
-
Spectrum of epilepsy in terminal 1p36 deletion syndrome
-
DOI 10.1111/j.1528-1167.2007.01424.x
-
Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Río M, et al. Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia 2008;49(3):509-15. (Pubitemid 351294538)
-
(2008)
Epilepsia
, vol.49
, Issue.3
, pp. 509-515
-
-
Bahi-Buisson, N.1
Guttierrez-Delicado, E.2
Soufflet, C.3
Rio, M.4
Cormier, D.V.5
Lacombe, D.6
Heron, D.7
Verloes, A.8
Zuberi, S.9
Burglen, L.10
Afenjar, A.11
Moutard, M.L.12
Edery, P.13
Novelli, A.14
Bernardini, L.15
Dulac, O.16
Nabbout, R.17
Plouin, P.18
Battaglia, A.19
-
9
-
-
84891741759
-
Fenotipos conductuales
-
Fejerman N (ed.). Buenos Aires: Editorial Paidós;
-
Fejerman N. Fenotipos conductuales. En: Fejerman N (ed.). Trastornos del desarrollo en niños y adolescentes. Buenos Aires: Editorial Paidós; 2010.Págs.269-80.
-
(2010)
Trastornos Del Desarrollo en Niños y Adolescentes
, pp. 269-280
-
-
Fejerman, N.1
-
10
-
-
0041930948
-
Síndrome de Angelman: Características electroclí nicas en 35 pacientes
-
Cersosimo R, Caraballo R, Espeche A, Cassar L, et al. Angelman syndrome: the electroclinical characteristics in 35 patients. Rev Neurol 2003;37(1):14-8. (Pubitemid 37028613)
-
(2003)
Revista de Neurologia
, vol.37
, Issue.1
, pp. 14-18
-
-
Cersosimo, R.1
Caraballo, R.2
Espeche, A.3
Cassar, L.4
Torrado, M.V.5
Chertkoff, L.6
Baialardo, E.7
Arroyo, H.8
Fejerman, N.9
-
11
-
-
0030902026
-
The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy
-
Battaglia A, Gurrieri F, Bertini E, Bellacosa A, et al. The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 1997;48(4):1081-6.
-
(1997)
Neurology
, vol.48
, Issue.4
, pp. 1081-1086
-
-
Battaglia, A.1
Gurrieri, F.2
Bertini, E.3
Bellacosa, A.4
-
12
-
-
59649106592
-
Genetics of epilepsy syndromes starting in the first year of life
-
Deprez L, Jansen A, De Jonghe P. Genetics of epilepsy syndromes starting in the first year of life. Neurology 2009;72(3):273-81.
-
(2009)
Neurology
, vol.72
, Issue.3
, pp. 273-281
-
-
Deprez, L.1
Jansen, A.2
De Jonghe, P.3
-
13
-
-
79953886270
-
Developments in molecular genetic diagnostics: An update for the pediatric epilepsy specialist
-
Pong W, Pal DK, Chung WK. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol 2011;44(5):317-27.
-
(2011)
Pediatr Neurol
, vol.44
, Issue.5
, pp. 317-327
-
-
Pong, W.1
Pal, D.K.2
Chung, W.K.3
-
14
-
-
81855224646
-
Genetic and biologic classification of infantile spasms
-
Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms. Pediatr Neurol 2011;45(6):355-67.
-
(2011)
Pediatr Neurol
, vol.45
, Issue.6
, pp. 355-367
-
-
Paciorkowski, A.R.1
Thio, L.L.2
Dobyns, W.B.3
-
15
-
-
84555202524
-
Genes of early-onset epileptic encephalopathies: From genotype to phenotype
-
Mastrangelo M, Leuzzi V. Genes of early-onset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol 2012;46(1):24-31.
-
(2012)
Pediatr Neurol
, vol.46
, Issue.1
, pp. 24-31
-
-
Mastrangelo, M.1
Leuzzi, V.2
-
16
-
-
79953726784
-
The core Dravet syndrome phenotype
-
Dravet C. The core Dravet syndrome phenotype. Epilepsia 2011;52(Suppl 2):3-9.
-
(2011)
Epilepsia
, vol.52
, Issue.SUPPL. 2
, pp. 3-9
-
-
Dravet, C.1
-
17
-
-
79953685960
-
The pharmacologic treatment of Dravet syndrome
-
Chiron C, Dulac O. The pharmacologic treatment of Dravet syndrome. Epilepsia 2011;52(Suppl 2):72-5.
-
(2011)
Epilepsia
, vol.52
, Issue.SUPPL. 2
, pp. 72-75
-
-
Chiron, C.1
Dulac, O.2
-
18
-
-
26944458179
-
Ketogenic diet in patients with Dravet syndrome
-
Caraballo RH, Cersosimo RO, Sakr D, Cresta A, et al. Ketogenic diet in patients with Dravet syndrome. Epilepsia 2005;46(9):1539-44.
-
(2005)
Epilepsia
, vol.46
, Issue.9
, pp. 1539-1544
-
-
Caraballo, R.H.1
Cersosimo, R.O.2
Sakr, D.3
Cresta, A.4
-
19
-
-
33750589354
-
Dravet syndrome: A study of 53 patients
-
Caraballo RH, Fejerman N. Dravet syndrome: a study of 53 patients. Epilepsy Res 2006;70(Suppl 1):S231-8.
-
(2006)
Epilepsy Res
, vol.70
, Issue.SUPPL. 1
-
-
Caraballo, R.H.1
Fejerman, N.2
-
20
-
-
79953691477
-
Nonpharmacologic treatments of Dravet syndrome: Focus on the ketogenic diet
-
Caraballo RH, Nonpharmacologic treatments of Dravet syndrome: focus on the ketogenic diet. Epilepsia 2011;52 (Suppl 2):79-82.
-
(2011)
Epilepsia
, vol.52
, Issue.SUPPL. 2
, pp. 79-82
-
-
Caraballo, R.H.1
-
21
-
-
0038240713
-
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
-
DOI 10.1002/humu.10217
-
Claes L, Ceulemans B, Audenaert D, Smets K, et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 2003;21(6):615-21. (Pubitemid 36667351)
-
(2003)
Human Mutation
, vol.21
, Issue.6
, pp. 615-621
-
-
Claes, L.1
Ceulemans, B.2
Audenaert, D.3
Smets, K.4
Lofgren, A.5
Del-Favero, J.6
Ala-Mello, S.7
Basel-Vanagaite, L.8
Plecko, B.9
Raskin, S.10
Thiry, P.11
Wolf, N.I.12
Van Broeckhoven, C.13
De Jonghe, P.14
-
22
-
-
0034987073
-
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
-
DOI 10.1086/320609
-
Claes L, Del-Favero J, Ceulemans B, Lagae L, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68(6):1327-32. (Pubitemid 32510608)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.6
, pp. 1327-1332
-
-
Claes, L.1
Del-Favero, J.2
Ceulemans, B.3
Lagae, L.4
Van Broeckhoven, C.5
De Jonghe, P.6
-
23
-
-
79953689051
-
The genetics of Dravet syndrome
-
Marini C, Scheffer IE, Nabbout R, Suls A, et al. The genetics of Dravet syndrome. Epilepsia 2011; 52(Suppl 2):24-9.
-
(2011)
Epilepsia
, vol.52
, Issue.SUPPL. 2
, pp. 24-29
-
-
Marini, C.1
Scheffer, I.E.2
Nabbout, R.3
Suls, A.4
-
25
-
-
64449088896
-
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
-
Scheffer IE, Zhang YH, Jansen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009;31(5):394-400.
-
(2009)
Brain Dev
, vol.31
, Issue.5
, pp. 394-400
-
-
Scheffer, I.E.1
Zhang, Y.H.2
Jansen, F.E.3
Dibbens, L.4
-
26
-
-
77951656572
-
Genetic testing in the epilepsies-report of the ILAE Genetics Commission
-
Ottman R, Hirose S, Jain S, Lerche H, et al. Genetic testing in the epilepsies-report of the ILAE Genetics Commission. Epilepsia 2010;51(4):655-70.
-
(2010)
Epilepsia
, vol.51
, Issue.4
, pp. 655-670
-
-
Ottman, R.1
Hirose, S.2
Jain, S.3
Lerche, H.4
-
27
-
-
61449230751
-
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
-
Depienne C, Bouteiller D, Keren B, Cheuret E, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009;5(2):e1000381.
-
(2009)
PLoS Genet
, vol.5
, Issue.2
-
-
Depienne, C.1
Bouteiller, D.2
Keren, B.3
Cheuret, E.4
-
28
-
-
79959955178
-
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations
-
Specchio N, Marini C, Terracciano A, Mei D., et al. Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. Epilepsia 2011;52(7):1251-7.
-
(2011)
Epilepsia
, vol.52
, Issue.7
, pp. 1251-1257
-
-
Specchio, N.1
Marini, C.2
Terracciano, A.3
Mei, D.4
-
29
-
-
17444440488
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
-
DOI 10.1002/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F
-
Amir RE, Van den Veyver IB, Schultz R, Malicki DM, et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 2000;47(5):670-9. (Pubitemid 30261908)
-
(2000)
Annals of Neurology
, vol.47
, Issue.5
, pp. 670-679
-
-
Amir, R.E.1
Van Den, V.I.B.2
Schultz, R.3
Malicki, D.M.4
Tran, C.Q.5
Dahle, E.J.6
Philippi, A.7
Timar, L.8
Percy, A.K.9
Motil, K.J.10
Lichtarge, O.11
Smith, E.O'B.12
Glaze, D.G.13
Zoghbi, H.Y.14
-
30
-
-
70450265399
-
Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: Case report and review of literature
-
Jacob FD, Ramaswamy V, Andersen J, Bolduc FV. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Eur J Hum Genet 2009;17(12):1577-81.
-
(2009)
Eur J Hum Genet
, vol.17
, Issue.12
, pp. 1577-1581
-
-
Jacob, F.D.1
Ramaswamy, V.2
Andersen, J.3
Bolduc, F.V.4
-
31
-
-
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, et al, The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia 2008;49(6):1027-37. (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, P.V.13
Dulac, O.14
Philippe, C.15
Chiron, C.16
Nabbout, R.17
Bienvenu, T.18
-
32
-
-
0032898260
-
X linked mental retardation and infantile spasms in a family: New clinical data and linkage to Xp11.4-Xp22.11
-
Stromme P, Sundet K, Mork C, Cassiman JJ, et al. X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. J Med Genet 1999;36(5): 374-8. (Pubitemid 29221872)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.5
, pp. 374-378
-
-
Stromme, P.1
Sundet, K.2
Mork, C.3
Cassiman, J.-J.4
Fryns, J.-P.5
Claes, S.6
-
33
-
-
84868158444
-
West syndrome and Lennox-Gastaut syndrome
-
Shorvon SD, Andermann F, Guerrini R (eds.) Cambridge: Cambridge Medicine
-
Guerrini R, Marini C. West syndrome and Lennox-Gastaut syndrome. En: Shorvon SD, Andermann F, Guerrini R (eds.) The causes of Epilepsy. Cambridge: Cambridge Medicine; 2011. Págs.119-34.
-
(2011)
The Causes of Epilepsy
, pp. 119-134
-
-
Guerrini, R.1
Marini, C.2
-
34
-
-
79957597804
-
Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life
-
Sartori S, Polli R, Bettella E, Rossato S, et al. Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. J Child Neurol 2011; 26(6):683-91.
-
(2011)
J Child Neurol
, vol.26
, Issue.6
, pp. 683-691
-
-
Sartori, S.1
Polli, R.2
Bettella, E.3
Rossato, S.4
-
35
-
-
84858294897
-
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome
-
Saitsu H, Kato M, Shimono M, Senju A, et al. Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. Clin Genet 2012;81(4):399-402.
-
(2012)
Clin Genet
, vol.81
, Issue.4
, pp. 399-402
-
-
Saitsu, H.1
Kato, M.2
Shimono, M.3
Senju, A.4
-
36
-
-
67650090920
-
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
-
Hamdan FF, Piton A, Gauthier J, Lortie A, et al. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann Neurol 2009;65(6):748-53.
-
(2009)
Ann Neurol
, vol.65
, Issue.6
, pp. 748-753
-
-
Hamdan, F.F.1
Piton, A.2
Gauthier, J.3
Lortie, A.4
-
37
-
-
80053564430
-
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients
-
Mignot C, Moutard ML, Trouillard O, Gourfinkel-An I, et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 2011;52(10):1820-7.
-
(2011)
Epilepsia
, vol.52
, Issue.10
, pp. 1820-1827
-
-
Mignot, C.1
Moutard, M.L.2
Trouillard, O.3
Gourfinkel-An, I.4
-
38
-
-
84861191703
-
Ohtahara syndrome with emphasis on recent genetic discovery
-
Pavone P, Spalice A, Polizzi A, Parisi P, et al. Ohtahara syndrome with emphasis on recent genetic discovery. Brain Dev 2012;34(6):459-68.
-
(2012)
Brain Dev
, vol.34
, Issue.6
, pp. 459-468
-
-
Pavone, P.1
Spalice, A.2
Polizzi, A.3
Parisi, P.4
-
39
-
-
0029088705
-
Migrating partial seizures in infancy: A malignant disorder with developmental arrest
-
Coppola G, Plouin P, Chiron C, Robain O, et al. Migrating partial seizures in infancy: a malignant disorder with developmental arrest. Epilepsia 1995;36(10):1017-24.
-
(1995)
Epilepsia
, vol.36
, Issue.10
, pp. 1017-1024
-
-
Coppola, G.1
Plouin, P.2
Chiron, C.3
Robain, O.4
-
40
-
-
42449124174
-
Migrating focal seizures in infancy: Analysis of the electroclinical patterns in 17 patients
-
DOI 10.1177/0883073807309771
-
Caraballo RH, Fontana E, Darra F, Cassar L, et al. Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients. J Child Neurol 2008;23(5):497-506. (Pubitemid 351566861)
-
(2008)
Journal of Child Neurology
, vol.23
, Issue.5
, pp. 497-506
-
-
Caraballo, R.H.1
Fontana, E.2
Darra, F.3
Cassar, L.4
Negrini, F.5
Fiorini, E.6
Arroyo, H.7
Ferraro, S.8
Fejerman, N.9
Bernardina, B.D.10
-
41
-
-
32044452240
-
Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy
-
DOI 10.1016/j.braindev.2005.05.002, PII S0387760405000860
-
Coppola G, Veggiotti P, Del Giudice EM, Bellini G, et al. Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy. Brain Dev 2006;28(2):76-9. (Pubitemid 43197586)
-
(2006)
Brain and Development
, vol.28
, Issue.2
, pp. 76-79
-
-
Coppola, G.1
Veggiotti, P.2
Del, G.E.M.3
Bellini, G.4
Longaretti, F.5
Taglialatela, M.6
Pascotto, A.7
-
42
-
-
80051530016
-
De novo SCN1A mutations in migrating partial seizures of infancy
-
Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, et al. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology 2011;77(4):380-3.
-
(2011)
Neurology
, vol.77
, Issue.4
, pp. 380-383
-
-
Carranza Rojo, D.1
Hamiwka, L.2
McMahon, J.M.3
Dibbens, L.M.4
-
43
-
-
84865039582
-
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
-
doi: 10.1111/j.1528-1167.2012.03538.x
-
Poduri A, Chopra SS, Neilan EG, Christina Elhosary P, et al. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia 2012. doi: 10.1111/j.1528-1167.2012.03538.x.
-
(2012)
Epilepsia
-
-
Poduri, A.1
Chopra, S.S.2
Neilan, E.G.3
Christina Elhosary, P.4
-
44
-
-
84856147573
-
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
-
Weckhuysen S, Mandelstam S, Suls A, Audenaert D, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012;71(1):15-25.
-
(2012)
Ann Neurol
, vol.71
, Issue.1
, pp. 15-25
-
-
Weckhuysen, S.1
Mandelstam, S.2
Suls, A.3
Audenaert, D.4
-
45
-
-
84856144700
-
Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
-
Lee HY, Huang Y, Bruneau N, Roll P, et al. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012;1(1):2-12.
-
(2012)
Cell Rep
, vol.1
, Issue.1
, pp. 2-12
-
-
Lee, H.Y.1
Huang, Y.2
Bruneau, N.3
Roll, P.4
-
46
-
-
84868088726
-
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine
-
Cloarec R, Bruneau N, Rudolf G, Massacrier A, et al., PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology 2012.
-
(2012)
Neurology
-
-
Cloarec, R.1
Bruneau, N.2
Rudolf, G.3
Massacrier, A.4
-
47
-
-
80054101308
-
Isolated neonatal seizures: When to suspect inborn errors of metabolism
-
Ficicioglu C, Bearden D. Isolated neonatal seizures: when to suspect inborn errors of metabolism. Pediatr Neurol 2011;45(5):283-91.
-
(2011)
Pediatr Neurol
, vol.45
, Issue.5
, pp. 283-291
-
-
Ficicioglu, C.1
Bearden, D.2
-
48
-
-
1342342924
-
Dependencia de piridoxina: Valor del diagnóstico clínico y del tratamiento precoz
-
Caraballo R, Garro F, Cersosimo RC, Buompadre C, et al. Pyridoxine dependence: the importance of the clinical diagnosis and early treatment. Rev Neurol 2004;38(1):49-52. (Pubitemid 38252033)
-
(2004)
Revista de Neurologia
, vol.38
, Issue.1
, pp. 49-52
-
-
Caraballo, R.1
Garro, F.2
Cersosimo, R.3
Buompadre, C.4
Ganez, L.A.5
Fejerman, N.6
-
49
-
-
77954645270
-
Seizures and paroxysmal events: Symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency
-
Schmitt B, Baumgartner M, Mills PB, Clayton PT, et al. Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol 2010;52(7):e133-42.
-
(2010)
Dev Med Child Neurol
, vol.52
, Issue.7
-
-
Schmitt, B.1
Baumgartner, M.2
Mills, P.B.3
Clayton, P.T.4
-
50
-
-
65449119303
-
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
-
Gallagher RC, Van Hove JL, Scharer G, Hyland K, et al. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 2009;65(5):550-6.
-
(2009)
Ann Neurol
, vol.65
, Issue.5
, pp. 550-556
-
-
Gallagher, R.C.1
Van Hove, J.L.2
Scharer, G.3
Hyland, K.4
-
51
-
-
79952554626
-
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy
-
Segal B, Grinspan ZM, Mandel AM., Gospe SM Jr. Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. Pediatr Neurol 2011;44(4):289-91.
-
(2011)
Pediatr Neurol
, vol.44
, Issue.4
, pp. 289-291
-
-
Segal, B.1
Grinspan, Z.M.2
Mandel, A.M.3
Gospe Jr., S.M.4
-
52
-
-
77954377790
-
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
-
Mills PB, Footitt EJ, Mills KA, Tuschl K, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 2010; 133(Pt 7):2148-59.
-
(2010)
Brain
, vol.133
, Issue.PART 7
, pp. 2148-2159
-
-
Mills, P.B.1
Footitt, E.J.2
Mills, K.A.3
Tuschl, K.4
-
53
-
-
66849093883
-
The K(ATP) channel and neonatal diabetes
-
Shimomura K. The K(ATP) channel and neonatal diabetes. Endocr J 2009;56(2):165-75.
-
(2009)
Endocr J
, vol.56
, Issue.2
, pp. 165-175
-
-
Shimomura, K.1
-
54
-
-
84866054022
-
Glucose transporter type i deficiency syndrome: Epilepsy phenotypes and outcomes
-
doi: 10.1111/j.1528-1167.2012.03592.xs
-
Pong AW, Geary BR, Engelstad KM, Natarajan A, et al. Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes. Epilepsia 2012; doi: 10.1111/j.1528-1167.2012.03592.xs.
-
(2012)
Epilepsia
-
-
Pong, A.W.1
Geary, B.R.2
Engelstad, K.M.3
Natarajan, A.4
-
56
-
-
82455167843
-
Cerebral folate deficiency: A neurometabolic syndrome?
-
Mangold S, Blau N, Opladen T, Steinfeld R, et al. Cerebral folate deficiency: a neurometabolic syndrome? Mol Genet Metab 2011;104(3):369-72.
-
(2011)
Mol Genet Metab
, vol.104
, Issue.3
, pp. 369-372
-
-
Mangold, S.1
Blau, N.2
Opladen, T.3
Steinfeld, R.4
-
57
-
-
63349094159
-
Cerebral folate deficiency
-
Gordon N. Cerebral folate deficiency. Dev Med Child Neurol 2009;51(3):180-2.
-
(2009)
Dev Med Child Neurol
, vol.51
, Issue.3
, pp. 180-182
-
-
Gordon, N.1
-
58
-
-
27644453469
-
POLG mutations in Alpers syndrome
-
DOI 10.1212/01.wnl.0000182814.55361.70
-
Nguyen KV, Ostergaard E, Ravn SH, Balslev T, et al. POLG mutations in Alpers syndrome. Neurology 2005;65(9):1493-5. (Pubitemid 41552791)
-
(2005)
Neurology
, vol.65
, Issue.9
, pp. 1493-1495
-
-
Nguyen, K.V.1
Ostergaard, E.2
Holst, R.S.3
Balslev, T.4
Rubaek, D.E.5
Vardag, A.6
McKiernan, P.J.7
Gray, G.8
Naviaux, R.K.9
-
59
-
-
79952423328
-
POLG1 manifestations in childhood
-
Isohanni P, Hakonen AH, Euro L, Paetau I, et al. POLG1 manifestations in childhood. Neurology 2011; 76(9): 811-5.
-
(2011)
Neurology
, vol.76
, Issue.9
, pp. 811-815
-
-
Isohanni, P.1
Hakonen, A.H.2
Euro, L.3
Paetau, I.4
-
60
-
-
77649188407
-
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
-
Saneto RP, Lee IC, Koenig MK, Bao X, et al. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure 2010;19(3):140-6.
-
(2010)
Seizure
, vol.19
, Issue.3
, pp. 140-146
-
-
Saneto, R.P.1
Lee, I.C.2
Koenig, M.K.3
Bao, X.4
-
61
-
-
80051531713
-
Epileptic seizures in infants and children with mitochondrial diseases
-
Lee HF, Chi CS, Tsai CR, Chen CH. Epileptic seizures in infants and children with mitochondrial diseases. Pediatr Neurol 2011;45(3):169-74.
-
(2011)
Pediatr Neurol
, vol.45
, Issue.3
, pp. 169-174
-
-
Lee, H.F.1
Chi, C.S.2
Tsai, C.R.3
Chen, C.H.4
-
63
-
-
0036123516
-
Chromosomal abnormalities and epilepsy: A review for clinicians and gene hunters
-
DOI 10.1046/j.1528-1157.2002.19498.x
-
Singh R, Gardner RJ, Crossland KM, Scheffer IE, et al. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 2002;43(2):127-40. (Pubitemid 34225992)
-
(2002)
Epilepsia
, vol.43
, Issue.2
, pp. 127-140
-
-
Singh, R.1
Gardner, R.J.M.2
Crossland, K.M.3
Scheffer, I.E.4
Berkovic, S.F.5
-
64
-
-
79952575575
-
Epilepsy and the new cytogenetics
-
Mulley JC, Mefford HC. Epilepsy and the new cytogenetics. Epilepsia 2011;52(3):423-32.
-
(2011)
Epilepsia
, vol.52
, Issue.3
, pp. 423-432
-
-
Mulley, J.C.1
Mefford, H.C.2
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