-
1
-
-
0032732556
-
Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK
-
Baxter P. (1999) Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 81: 431-433.
-
(1999)
Arch Dis Child
, vol.81
, pp. 431-433
-
-
Baxter, P.1
-
2
-
-
85046523359
-
Neonatal seizures after pyridoxine use
-
Baxter P, Aicardi J. (1999) Neonatal seizures after pyridoxine use. Lancet 354: 2082-2083.
-
(1999)
Lancet
, vol.354
, pp. 2082-2083
-
-
Baxter, P.1
Aicardi, J.2
-
3
-
-
0033849151
-
Pyridoxine dependent epilepsy: A suggestive electroclinical pattern
-
Baxter P. (2000) Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed 83: F163.
-
(2000)
Arch Dis Child Fetal Neonatal Ed
, vol.83
-
-
Baxter, P.1
-
4
-
-
0034911419
-
Pyridoxine-dependent and pyridoxine-responsive seizures
-
Baxter P. (2001a) Pyridoxine-dependent and pyridoxine-responsive seizures. Dev Med Child Neurol 43: 416-420.
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 416-420
-
-
Baxter, P.1
-
5
-
-
0011956154
-
Pyridoxine dependent and pyridoxine responsive seizures
-
In Baxter P. (Ed). Mac Keith Press, London, pp.
-
Baxter P. (2001b) Pyridoxine dependent and pyridoxine responsive seizures. In, Baxter P, (Ed) Vitamin responsive conditions in paediatric neurology. Mac Keith Press, London, pp. 109-165.
-
(2001)
Vitamin Responsive Conditions in Paediatric Neurology
, pp. 109-165
-
-
Baxter, P.1
-
6
-
-
1242341236
-
Pyridoxine-dependent seizures: A clinical and biochemical conundrum
-
Baxter P. (2003) Pyridoxine-dependent seizures: a clinical and biochemical conundrum. Biochim Biophys Acta 1647: 36-41.
-
(2003)
Biochim Biophys Acta
, vol.1647
, pp. 36-41
-
-
Baxter, P.1
-
7
-
-
18244408285
-
Pyridoxine or pyridoxal phosphate for intractable seizures?
-
Baxter P. (2005) Pyridoxine or pyridoxal phosphate for intractable seizures? Arch Dis Child 90: 441-442.
-
(2005)
Arch Dis Child
, vol.90
, pp. 441-442
-
-
Baxter, P.1
-
8
-
-
28444454497
-
Epidemiology of pyridoxine dependent seizures in the Netherlands
-
Been JV, Bok LA, Andriessen P, Renier WO. (2005) Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch Dis Child 90: 1293-1296.
-
(2005)
Arch Dis Child
, vol.90
, pp. 1293-1296
-
-
Been, J.V.1
Bok, L.A.2
Andriessen, P.3
Renier, W.O.4
-
9
-
-
34547662436
-
Pyridoxine-dependent seizures in Dutch patients: Diagnosis by elevated urinary alpha-aminoadipic levels
-
Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C. (2007) Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic levels. Arch Dis Child 92: 687-689.
-
(2007)
Arch Dis Child
, vol.92
, pp. 687-689
-
-
Bok, L.A.1
Struys, E.2
Willemsen, M.A.3
Been, J.V.4
Jakobs, C.5
-
10
-
-
77949268351
-
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures
-
Bok LA, Been JV, Struys EA, Jakobs C, Rijper EA, Willemsen MA. (2010) Antenatal treatment in two Dutch families with pyridoxine-dependent seizures. Eur J Pediatr 169: 297-303.
-
(2010)
Eur J Pediatr
, vol.169
, pp. 297-303
-
-
Bok, L.A.1
Been, J.V.2
Struys, E.A.3
Jakobs, C.4
Rijper, E.A.5
Willemsen, M.A.6
-
11
-
-
65449119303
-
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
-
Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. (2009) Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 65: 550-556.
-
(2009)
Ann Neurol
, vol.65
, pp. 550-556
-
-
Gallagher, R.C.1
Van Hove, J.L.2
Scharer, G.3
Hyland, K.4
Plecko, B.5
Waters, P.J.6
Mercimek-Mahmutoglu, S.7
Stockler-Ipsiroglu, S.8
Salomons, G.S.9
Rosenberg, E.H.10
Struys, E.A.11
Jakobs, C.12
-
12
-
-
0031843024
-
Current perspectives on pyridoxine-dependent seizures
-
Gospe SM Jr. (1998) Current perspectives on pyridoxine-dependent seizures. J Pediatr 132: 919-923.
-
(1998)
J Pediatr
, vol.132
, pp. 919-923
-
-
Gospe, Jr.S.M.1
-
13
-
-
33645061291
-
Pyridoxine-dependent seizures: New genetic and biochemical clues to help with diagnosis and treatment
-
Gospe SM Jr. (2006) Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment. Curr Opin Neurol 19: 148-153.
-
(2006)
Curr Opin Neurol
, vol.19
, pp. 148-153
-
-
Gospe, Jr.S.M.1
-
14
-
-
0035137321
-
CSF glutamate/GABA concentrations in pyridoxine-dependent seizures: Etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control
-
Goto T, Matsuo N, Takahashi T. (2001) CSF glutamate/GABA concentrations in pyridoxine-dependent seizures: etiology of pyridoxine-dependent seizures and the mechanisms of pyridoxine action in seizure control. Brain Dev 23: 24-29.
-
(2001)
Brain Dev
, vol.23
, pp. 24-29
-
-
Goto, T.1
Matsuo, N.2
Takahashi, T.3
-
15
-
-
0025730349
-
Pyridoxine-dependent seizures, clinical and therapeutic aspects
-
Haenggeli CA, Girardin E, Paunier L. (1991) Pyridoxine-dependent seizures, clinical and therapeutic aspects. Eur J Pediatr 150: 452-455.
-
(1991)
Eur J Pediatr
, vol.150
, pp. 452-455
-
-
Haenggeli, C.A.1
Girardin, E.2
Paunier, L.3
-
16
-
-
0036348212
-
Amplitude-integrated encephalography in pyridoxine-dependent seizures and pyridoxine-responsive seizures
-
Hellstrom-Westas L, Blennow G, Rosen I. (2002) Amplitude-integrated encephalography in pyridoxine-dependent seizures and pyridoxine-responsive seizures. Acta Paediatr 91: 977-980.
-
(2002)
Acta Paediatr
, vol.91
, pp. 977-980
-
-
Hellstrom-Westas, L.1
Blennow, G.2
Rosen, I.3
-
17
-
-
0000743130
-
Pyridoxine dependency: Report of a case of intractable convulsions in an infant controlled by pyridoxine
-
Hunt AD Jr, Stokes J Jr, McCrory WW, Stroud HH. (1954) Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 13: 140-145.
-
(1954)
Pediatrics
, vol.13
, pp. 140-145
-
-
Hunt, Jr.A.D.1
Stokes, Jr.J.2
McCrory, W.W.3
Stroud, H.H.4
-
18
-
-
34447257158
-
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis
-
Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y. (2007) Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab 91: 384-389.
-
(2007)
Mol Genet Metab
, vol.91
, pp. 384-389
-
-
Kanno, J.1
Kure, S.2
Narisawa, A.3
Kamada, F.4
Takayanagi, M.5
Yamamoto, K.6
Hoshino, H.7
Goto, T.8
Takahashi, T.9
Haginoya, K.10
Tsuchiya, S.11
Baumeister, F.A.12
Hasegawa, Y.13
Aoki, Y.14
Yamaguchi, S.15
Matsubara, Y.16
-
19
-
-
0001898498
-
EEG analysis: Theory and practice
-
In Niedermeyer E., Lopes da Silva F. (Eds). Lippincott Williams and Wilkins, Philadelphia, PA, pp.
-
Lopes da Silva F. (2005) EEG analysis: theory and practice. In, Niedermeyer E, Lopes da Silva F, (Eds) Electroencephalography: basic principles, clinical applications and related fields. Lippincott Williams and Wilkins, Philadelphia, PA, pp. 1199-1232.
-
(2005)
Electroencephalography: Basic Principles, Clinical Applications and Related Fields
, pp. 1199-1232
-
-
Lopes Da Silva, F.1
-
21
-
-
20244367772
-
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
-
Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJ, Briddon A, Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT. (2005) Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum Mol Genet 14: 1077-1086.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1077-1086
-
-
Mills, P.B.1
Surtees, R.A.2
Champion, M.P.3
Beesley, C.E.4
Dalton, N.5
Scambler, P.J.6
Heales, S.J.7
Briddon, A.8
Scheimberg, I.9
Hoffmann, G.F.10
Zschocke, J.11
Clayton, P.T.12
-
22
-
-
33644821320
-
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
-
Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT. (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12: 307-309.
-
(2006)
Nat Med
, vol.12
, pp. 307-309
-
-
Mills, P.B.1
Struys, E.2
Jakobs, C.3
Plecko, B.4
Baxter, P.5
Baumgartner, M.6
Willemsen, M.A.7
Omran, H.8
Tacke, U.9
Uhlenberg, B.10
Weschke, B.11
Clayton, P.T.12
-
23
-
-
76749155093
-
Electroencephalographic changes in pyridoxine-dependant epilepsy: New observations
-
Naasan G, Yabroudi M, Rahi A, Mikati MA. (2009) Electroencephalographic changes in pyridoxine-dependant epilepsy: new observations. Epileptic Disord 11: 293-300.
-
(2009)
Epileptic Disord
, vol.11
, pp. 293-300
-
-
Naasan, G.1
Yabroudi, M.2
Rahi, A.3
Mikati, M.A.4
-
25
-
-
0023131533
-
Pyridoxine dependency seizures: Report of a case with unusual features
-
Pettit RE. (1987) Pyridoxine dependency seizures: report of a case with unusual features. J Child Neurol 2: 38-40.
-
(1987)
J Child Neurol
, vol.2
, pp. 38-40
-
-
Pettit, R.E.1
-
26
-
-
33845964751
-
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
-
Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, Di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W. (2007) Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat 28: 19-26.
-
(2007)
Hum Mutat
, vol.28
, pp. 19-26
-
-
Plecko, B.1
Paul, K.2
Paschke, E.3
Stoeckler-Ipsiroglu, S.4
Struys, E.5
Jakobs, C.6
Hartmann, H.7
Luecke, T.8
Di Capua, M.9
Korenke, C.10
Hikel, C.11
Reutershahn, E.12
Freilinger, M.13
Baumeister, F.14
Bosch, F.15
Erwa, W.16
-
27
-
-
33947574490
-
Pyridoxine-dependent seizures: A family phenotype that leads to severe cognitive deficits, regardless of treatment regime
-
Rankin PM, Harrison S, Chong WK, Boyd S, Aylett SE. (2007) Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol 49: 300-305.
-
(2007)
Dev Med Child Neurol
, vol.49
, pp. 300-305
-
-
Rankin, P.M.1
Harrison, S.2
Chong, W.K.3
Boyd, S.4
Aylett, S.E.5
-
28
-
-
36148958973
-
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)
-
Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C. (2007) An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1). Ann Neurol 62: 414-418.
-
(2007)
Ann Neurol
, vol.62
, pp. 414-418
-
-
Salomons, G.S.1
Bok, L.A.2
Struys, E.A.3
Pope, L.L.4
Darmin, P.S.5
Mills, P.B.6
Clayton, P.T.7
Willemsen, M.A.8
Jakobs, C.9
-
29
-
-
0346995458
-
Neonatal seizures and brain damage
-
Scher MS. (2003) Neonatal seizures and brain damage. Pediatr Neurol 29: 381-390.
-
(2003)
Pediatr Neurol
, vol.29
, pp. 381-390
-
-
Scher, M.S.1
-
30
-
-
63849243167
-
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures
-
Striano P, Battaglia S, Giordano L, Capovilla G, Beccaria F, Struys EA, Salomons GS, Jakobs C. (2009) Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. Epilepsia 50: 933-936.
-
(2009)
Epilepsia
, vol.50
, pp. 933-936
-
-
Striano, P.1
Battaglia, S.2
Giordano, L.3
Capovilla, G.4
Beccaria, F.5
Struys, E.A.6
Salomons, G.S.7
Jakobs, C.8
-
31
-
-
34249679558
-
Pyridoxine induces non-specific EEG alterations in infants with therapy resistant seizures
-
Teune LK, Vd Hoeven JH, Maurits NM, Bos AF, Alffenaar JW, Reijngoud DJ, Brouwer OF, Sival DA. (2007) Pyridoxine induces non-specific EEG alterations in infants with therapy resistant seizures. Seizure 16: 459-464.
-
(2007)
Seizure
, vol.16
, pp. 459-464
-
-
Teune, L.K.1
Vd Hoeven, J.H.2
Maurits, N.M.3
Bos, A.F.4
Alffenaar, J.W.5
Reijngoud, D.J.6
Brouwer, O.F.7
Sival, D.A.8
-
32
-
-
34250755501
-
Current treatment of West syndrome in Japan
-
Tsuji T, Okumura A, Ozawa H, Ito M, Watanabe K. (2007) Current treatment of West syndrome in Japan. J Child Neurol 22: 560-564.
-
(2007)
J Child Neurol
, vol.22
, pp. 560-564
-
-
Tsuji, T.1
Okumura, A.2
Ozawa, H.3
Ito, M.4
Watanabe, K.5
-
33
-
-
18244389446
-
Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy
-
Wang HS, Kuo MF, Chou ML, Hung PC, Lin KL, Hsieh MY, Chang MY. (2005) Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy. Arch Dis Child 90: 512-515.
-
(2005)
Arch Dis Child
, vol.90
, pp. 512-515
-
-
Wang, H.S.1
Kuo, M.F.2
Chou, M.L.3
Hung, P.C.4
Lin, K.L.5
Hsieh, M.Y.6
Chang, M.Y.7
-
34
-
-
0033705948
-
Inhibition-based rhythms: Experimental and mathematical observations on network dynamics
-
Whittington MA, Traub RD, Kopell N, Ermentrout B, Buhl EH. (2000) Inhibition-based rhythms: experimental and mathematical observations on network dynamics. Int J Psychophysiol 38: 315-336.
-
(2000)
Int J Psychophysiol
, vol.38
, pp. 315-336
-
-
Whittington, M.A.1
Traub, R.D.2
Kopell, N.3
Ermentrout, B.4
Buhl, E.H.5
|