-
1
-
-
0011956154
-
Pyridoxine dependent and pyridoxine responsive seizures
-
Baxter P, ed. International Child Neurology Association. London: MacKeith Press
-
Baxter P. Pyridoxine dependent and pyridoxine responsive seizures. In Baxter P, ed. In Vitamin responsive conditions in paediatric neurology. International Child Neurology Association. London: MacKeith Press; 2001. p. 109-59.
-
(2001)
In Vitamin Responsive Conditions in Paediatric Neurology
, pp. 109-159
-
-
Baxter, P.1
-
2
-
-
0000743130
-
Pyridoxine dependency: Report of a case of intractable convulsions in an infant controlled by pyridoxine
-
Hunt AD, Stokes J, McCrory WW, Stroud HH. Pyridoxine dependency: Report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 1954; 13: 140-5.
-
(1954)
Pediatrics
, vol.13
, pp. 140-145
-
-
Hunt, A.D.1
Stokes, J.2
McCrory, W.W.3
Stroud, H.H.4
-
3
-
-
0020546448
-
Pyridoxine dependent seizures - A wider clinical spectrum
-
Bankier A, Turner M, Hopkins IJ. Pyridoxine dependent seizures - a wider clinical spectrum. Arch Dis Child 1983; 58: 415-8.
-
(1983)
Arch Dis Child
, vol.58
, pp. 415-418
-
-
Bankier, A.1
Turner, M.2
Hopkins, I.J.3
-
4
-
-
0242438384
-
Pyridoxine dependent epilepsy: A suggestive electroclinical pattern
-
Nabbout R, Soufflet C, Plouin P, Dulac O. Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child 1999; 81: 125-9.
-
(1999)
Arch Dis Child
, vol.81
, pp. 125-129
-
-
Nabbout, R.1
Soufflet, C.2
Plouin, P.3
Dulac, O.4
-
5
-
-
0032732556
-
Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK
-
Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 1999; 81: 431-3.
-
(1999)
Arch Dis Child
, vol.81
, pp. 431-433
-
-
Baxter, P.1
-
6
-
-
0033854624
-
Glutamate decarboxilase is not genetically linked to pyridoxine dependent seizures
-
Battaglioli G, Rosen DR, Gospe SM, Martin DL. Glutamate decarboxilase is not genetically linked to pyridoxine dependent seizures. Neurology 2000; 55: 309-11.
-
(2000)
Neurology
, vol.55
, pp. 309-311
-
-
Battaglioli, G.1
Rosen, D.R.2
Gospe, S.M.3
Martin, D.L.4
-
7
-
-
0028022624
-
Glutamate in pyridoxine dependent epilepsy: Neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine
-
Baumeister FAM, Gesell W, Shin YS, Egger J. Glutamate in pyridoxine dependent epilepsy: Neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine. Pediatrics 1994; 94: 318-21.
-
(1994)
Pediatrics
, vol.94
, pp. 318-321
-
-
Baumeister, F.A.M.1
Gesell, W.2
Shin, Y.S.3
Egger, J.4
-
8
-
-
0033794957
-
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31
-
Cormier-Daire V, Dagoneau N, Nabbout R, Burglen L, Penet C, Soufflet C, et al. A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. Am J Hum Genet 2000; 67: 991-3.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 991-993
-
-
Cormier-Daire, V.1
Dagoneau, N.2
Nabbout, R.3
Burglen, L.4
Penet, C.5
Soufflet, C.6
-
9
-
-
0343496737
-
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine dependent epilepsy
-
Plecko B, Stockler-Ipsiroglu S, Paschke E. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine dependent epilepsy. Ann Neurol 2000; 48: 121-5.
-
(2000)
Ann Neurol
, vol.48
, pp. 121-125
-
-
Plecko, B.1
Stockler-Ipsiroglu, S.2
Paschke, E.3
-
10
-
-
0031411475
-
Benign familial neonatal convulsion: Abnormal intrauterine movements, provocation by feeding and ictal EEG
-
Kandler R. Benign familial neonatal convulsion: abnormal intrauterine movements, provocation by feeding and ictal EEG. Seizure 1997; 6: 485-6.
-
(1997)
Seizure
, vol.6
, pp. 485-486
-
-
Kandler, R.1
-
11
-
-
0031843024
-
Current perspectives on pyridoxine-dependent seizures
-
Gospe SM. Current perspectives on pyridoxine-dependent seizures. J Pediatr 1998; 132: 919-23.
-
(1998)
J Pediatr
, vol.132
, pp. 919-923
-
-
Gospe, S.M.1
-
12
-
-
0029850279
-
Pyridoxine dependent seizures: Demographic, clinical, radiological and psichometrics features, and effect of dose on intelligence quotient
-
Griffiths P, Kelly T, Gardner-Medwin D. Pyridoxine dependent seizures: demographic, clinical, radiological and psichometrics features, and effect of dose on intelligence quotient. Dev Med Child Neurol 1996; 39: 998-1006.
-
(1996)
Dev Med Child Neurol
, vol.39
, pp. 998-1006
-
-
Griffiths, P.1
Kelly, T.2
Gardner-Medwin, D.3
-
13
-
-
0000483323
-
Sign of pyridoxine dependency manifest at birth in siblings
-
Waldinger C, Berg RB. Sign of pyridoxine dependency manifest at birth in siblings. Pediatrics 1963; 32: 161-8.
-
(1963)
Pediatrics
, vol.32
, pp. 161-168
-
-
Waldinger, C.1
Berg, R.B.2
-
14
-
-
0033016474
-
Long-term follow-up of an individual with vitamin B6 dependent seizures
-
Hattori J, Ishida T. Long-term follow-up of an individual with vitamin B6 dependent seizures. Dev Med Child Neurol 1999; 41: 203-6.
-
(1999)
Dev Med Child Neurol
, vol.41
, pp. 203-206
-
-
Hattori, J.1
Ishida, T.2
-
15
-
-
0021962790
-
Atypical presentation of pyridoxine dependent seizures: A treatable cause of intractable epilepsy in infants
-
Goutières F, Aicardi J. Atypical presentation of pyridoxine dependent seizures: a treatable cause of intractable epilepsy in infants. Ann Neurol 1985; 17: 117-20.
-
(1985)
Ann Neurol
, vol.17
, pp. 117-120
-
-
Goutières, F.1
Aicardi, J.2
-
16
-
-
0034922363
-
Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine
-
Grillo E, Da Silva RJM, Filho JHB. Pyridoxine-dependent seizures responding to extremely low-dose pyridoxine. Dev Med Child Neurol 2001; 43: 413-5.
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 413-415
-
-
Grillo, E.1
Da Silva, R.J.M.2
Filho, J.H.B.3
-
17
-
-
0025730349
-
Pyridoxine dependent seizures, clinical and therapeutic aspects
-
Haenggeli CA, Girardin E, Paurnier L. Pyridoxine dependent seizures, clinical and therapeutic aspects. Eur Pediatr 1991; 150: 452-5.
-
(1991)
Eur Pediatr
, vol.150
, pp. 452-455
-
-
Haenggeli, C.A.1
Girardin, E.2
Paurnier, L.3
-
18
-
-
0026470695
-
Disturbance of GABA metabolism in pyridoxine-dependent seizures
-
Ziegler R, Gruneberg M. Disturbance of GABA metabolism in pyridoxine-dependent seizures. Neuropediatrics 1992; 23: 257-9.
-
(1992)
Neuropediatrics
, vol.23
, pp. 257-259
-
-
Ziegler, R.1
Gruneberg, M.2
-
19
-
-
0026502799
-
Pyridoxine dependent seizures: Report of a case with atypical clinical features and abnormal MRI scans
-
Tanaka R, Okumura M, Arima J. Pyridoxine dependent seizures: report of a case with atypical clinical features and abnormal MRI scans. J Child Neurol 1992; 17: 24-8.
-
(1992)
J Child Neurol
, vol.17
, pp. 24-28
-
-
Tanaka, R.1
Okumura, M.2
Arima, J.3
-
20
-
-
0029814382
-
Pyridoxine dependent epilepsy: The need for repeated pyridoxine trials and the risk of severe electroclinical suppression with intravenous pyridoxine infusion
-
Bass NE, Wyllie E, Cohen B, Joseph SA. Pyridoxine dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electroclinical suppression with intravenous pyridoxine infusion. J Child Neurol 1996; 11: 422-4.
-
(1996)
J Child Neurol
, vol.11
, pp. 422-424
-
-
Bass, N.E.1
Wyllie, E.2
Cohen, B.3
Joseph, S.A.4
-
21
-
-
0029879138
-
Pyridoxine dependent seizures
-
Singh UK, Sinha RK. Pyridoxine dependent seizures. Indian Pediatr 1996; 33: 121-3.
-
(1996)
Indian Pediatr
, vol.33
, pp. 121-123
-
-
Singh, U.K.1
Sinha, R.K.2
-
22
-
-
0031821656
-
A subtype of pyridoxine dependent epilepsy with normal glutamate concentration
-
Kure S, Maeda T, Fukushima N. A subtype of pyridoxine dependent epilepsy with normal glutamate concentration. J Inherited Metab Dis 1998; 21: 431-2.
-
(1998)
J Inherited Metab Dis
, vol.21
, pp. 431-432
-
-
Kure, S.1
Maeda, T.2
Fukushima, N.3
-
23
-
-
0026905512
-
Postneonatal vitamine B6 dependent epilepsy
-
Coker SB. Postneonatal vitamine B6 dependent epilepsy. Pediatrics 1992; 90: 221-3.
-
(1992)
Pediatrics
, vol.90
, pp. 221-223
-
-
Coker, S.B.1
-
24
-
-
0017903491
-
6 dependent seizures: Pathology and chemical findings in brain
-
6 dependent seizures: pathology and chemical findings in brain. Neurology 1978; 28: 47-54.
-
(1978)
Neurology
, vol.28
, pp. 47-54
-
-
Lott, I.T.1
Coulombe, T.2
Di Paolo, R.V.3
-
25
-
-
0032957499
-
D-2 hydroxyglutaric aciduria: Biochemical marker or clinical disease entity?
-
Van der Naap MS, Jakobs C, Hoffman GF. D-2 hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol 1999; 45: 111-9.
-
(1999)
Ann Neurol
, vol.45
, pp. 111-119
-
-
Van Der Naap, M.S.1
Jakobs, C.2
Hoffman, G.F.3
-
26
-
-
0028065490
-
Pyridoxine dependent seizures associated with white matter abnormalities
-
Jardim LB, Pires RF, Martin CES. Pyridoxine dependent seizures associated with white matter abnormalities. Neuropediatrics 1994; 25: 259-61.
-
(1994)
Neuropediatrics
, vol.25
, pp. 259-261
-
-
Jardim, L.B.1
Pires, R.F.2
Martin, C.E.S.3
-
27
-
-
0028897913
-
Pyridoxine dependent epilepsy with iatrogenic sensory neurophaty
-
McLachlan RS, Brown WF. Pyridoxine dependent epilepsy with iatrogenic sensory neurophaty. Can J Neurol Sci 1995; 22: 50-1.
-
(1995)
Can J Neurol Sci
, vol.22
, pp. 50-51
-
-
McLachlan, R.S.1
Brown, W.F.2
-
28
-
-
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. 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: 796-803.
-
(2001)
Epilepsia
, vol.42
, pp. 796-803
-
-
Engel, J.1
-
30
-
-
0037367275
-
Epilepsia mioclónica refleja del lactante: Un nuevo síndrome epiléptico reflejo o una variante de epilepsia mioclónica benigna de la infancia
-
Caraballo R, Cassar L, Monges S, Yepez I, Galicchio S, Cersósimo R, et al. Epilepsia mioclónica refleja del lactante: un nuevo síndrome epiléptico reflejo o una variante de epilepsia mioclónica benigna de la infancia. Rev Neurol 2003; 36: 429-32.
-
(2003)
Rev Neurol
, vol.36
, pp. 429-432
-
-
Caraballo, R.1
Cassar, L.2
Monges, S.3
Yepez, I.4
Galicchio, S.5
Cersósimo, R.6
-
31
-
-
0038383850
-
Epileptic spasm in clusters without hypsarrhythmia in infancy
-
Caraballo R, Fejerman N, Dalla Bemardina B, Ruggieri V, Cersósimo R, Medina C, et al. Epileptic spasm in clusters without hypsarrhythmia in infancy. Epileptic Disord 2003; 5: 109-13.
-
(2003)
Epileptic Disord
, vol.5
, pp. 109-113
-
-
Caraballo, R.1
Fejerman, N.2
Dalla Bemardina, B.3
Ruggieri, V.4
Cersósimo, R.5
Medina, C.6
-
32
-
-
0004096160
-
Inherited metabolic disorders
-
Engel J, Pedley T, eds. Philadelphia: Lippincott-Raven
-
García-Álvarez M, Nordli D, De Vivo D. Inherited metabolic disorders. In Engel J, Pedley T, eds. Epilepsy: a comprehensive textbook. Philadelphia: Lippincott-Raven; 1997. p. 2547-62.
-
(1997)
Epilepsy: A Comprehensive Textbook
, pp. 2547-2562
-
-
García-Álvarez, M.1
Nordli, D.2
De Vivo, D.3
|