Pyridoxine and pyridoxalphosphate-dependent epilepsies

Handbook of Clinical Neurology

Volumn 113, Issue , 2013, Pages 1811-1817

  Plecko, Barbara ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84876862724     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00050-2     Document Type: Chapter

References (57)

1. Bankier A., Turner M., Hopkins I.J. Pyridoxine dependent seizures - a wider clinical spectrum. Arch Dis Child 1983, 58:415-418.
2. Bass N.E., Wylie E., Cohen B., et al. Pyridoxine dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion. J Child Neurol 1996, 11:422-424.
3. Basura G.J., Hagland S.P., Wiltse A.M., et al. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. Eur J Pediatr 2008, 168:697-704.
4. Baumgartner-Sigl S., Haberlandt E., Mumm S.T., et al. Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations of the TNSAP gene. Bone 2007, 40:1655-1661.
5. Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 1999, 81:431-433.
6. Baxter P. Pyridoxine dependent and pyridoxine responsive seizures. Vitamin Responsive Conditions in Pediatric Neurology 2001, 109-165. Mac Keith Press, London. P. Baxter (Ed.).
7. Baxter P. Pyridoxine-dependent and pyridoxine responsive seizures. Dev Med Child Neurol 2001, 43:416-420.
8. Baxter P. Pyridoxine-dependent seizures: a clinical and biochemical conundrum. Biochim Biophys Acta 2003, 1647:36-41.
9. Baxter P., Griffiths P., Kelly T., et al. Pyridoxine dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 1996, 38:998-1006.
10. Bejsovec M., Kulenda Z., Ponča E. Familial intrauterine convulsions in pyridoxine dependency. Arch Dis Child 1967, 42:201-207.
11. Bennett C.L., Huynh H.M., Chance P.F., et al. Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. Neurogenetics 2005, 6:143-149.
12. Bennett C.L., Chen Y., Hahn S., et al. Prevalence of ALDH7A1 mutations in North American pyridoxine-dependent seizure (PDS) patients. Epilepsia 2008, 50:1-9.
13. Bethenod M., Cotte M.F., Collombel C., et al. Neonatal discovery of hypophosphatasia. Ann Pediatr (Paris) 1967, 14:835-841.
14. Bok L.A., Struys E., Willemsen M.A., et al. Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels. Arch Dis Child 2007, 92:687-689.
15. Bok L.A., Been J.V., Struys E.A., et al. Antenatal treatment in two Dutch families with pyridoxine dependent seizures. Eur J Pediatr 2009, 169:297-303.
16. Clayton P., Plecko B. Pyridoxine- and pyridoxalphosphate-dependent epilepsies. Proceedings of the 40th European Metabolic Group Meeting 2008 2008, 31-40. SPS Publications, Heidelberg, 3-936145-30-X.
17. 6 dependent epilepsy. Pediatrics 1992, 90:221-223.
18. Cormier-Daire V., Dagoneau N., Nabbout R., et al. A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. Am J Hum Genet 2000, 67:991-993.
19. Farrant R.D., Walker V., Mills G., et al. Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. J Biol Chem 2001, 276:15107-15116.
20. Flynn M.P., Martin M.C., Moore P.T., et al. Type II hyperprolinemia in a pedigree of Irish travelers (nomads). Arch Dis Child 1989, 64:1699-1707.
21. Frye R.E., Donner E., Golja A., et al. Folinic-acid responsive seizures presenting as breakthrough seizures in a 3 month old boy. J Child Neurol 2003, 18:562-569.
22. Gallagher R.C., Van Hove J.L.K., Scharer G., et al. Folinic acid-responsive seizures are caused by α-amino adipic semialdehyde dehydrogenase deficiency and are genetically identical to pyridoxine-dependent epilepsy. Ann Neurol 2009, 65:550-556.
23. Gordon N. Pyridoxine dependency: an update. Dev Med Child Neurol. 1997, 39:63-65.
24. Gospe S. Pyridoxine-dependent seizures: findings from recent studies pose new questions. Pediatr Neurol 2002, 26:181-185.
25. Gospe S.M., Hecht S.T. Longitudinal MRI findings in pyridoxine-dependent seizures. Neurology 1998, 51:74-78.
26. Goutières F., Aicardi J. Atypical presentation of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. Ann Neurol 1985, 17:117-120.
27. Grillo E., da Silva R.J.M., Barbato J.H. Pyridoxine-dependent seizures responding to extremely low dose pyridoxine. Dev Med Child Neurol 2001, 43:413-415.
28. Haenggeli C.A., Girardin E., Paunier L. Pyridoxine-dependent seizures, clinical and therapeutic aspects. Eur J Pediatr 1991, 150:452-455.
29. Hellström-Westas L., Blennow G., Rosé I. Amplitude integrated encephalopathy in pyridoxine-dependent seizures and pyridoxine-responsive seizures. Acta Paediatr 2002, 91:977-980.
30. Hoffmann G.F., Schmitt B., Windfuhr M., et al. Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 2007, 30:96-99.
31. Hunt A.D., Stokes J., McCrory W.W., et al. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 1954, 13:140.
32. Hyland K., Buist N.R.M., Powell B.R., et al. Folinic acid responsive seizures: a new syndrome?. J Inherit Metab Dis 1995, 18:177-181.
33. Kanno J., Kure S., Narisawa A., et al. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab 2007, 91:384-389.
34. Kluger G., Blank R., Paul K., et al. Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. Neuropediatrics 2008, 39:276-279.
35. 6 treatment in homocystinuria. Eur J Pediatr 1993, 152:271.
36. McLachlan R.S., Brown W.F. Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. Can J Neurol Sci 1995, 22:50-51.
37. Millán J.L., Narisawa S., Lemire I., et al. Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res 2008, 23:777-787.
38. Mills P.B., Surtees R.A., Champion M.P., et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet 2005, 14:1077-1086.
39. Mills Ph., Struys E., Jakobs C., et al. Mutations in the antiquitin (ALDH7A1) gene in patients with pyridoxine-dependent seizures. Nat Med 2006, 12:307-309.
40. Molony C.J., Parmelee A.H. Convulsions in young infants as a result of pyridoxine (vitamin B6) deficiency. JAMA 1954, 154:405.
41. Nabbout R., Soufflet C., Plouin P., et al. Pyridoxine dependent-epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed 1999, 81:F125-F129.
42. Nicolai J., van Kranen-Mastenbroek V.H., Wevers R., et al. Folinic acid responsive seizures initially responsive to pyridoxine. Pediatr Neurol 2006, 34:164-167.
43. Onenli-Mungan N., Yüksel B., Elkay M., et al. Type II hyperprolinemia: a case report. Turk J Pediatr 2004, 46:167-169.
44. Ormazabal A., Oppenheim M., Serrano M., et al. Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. Mol Genet Metab 2008, 2:173-177.
45. Plecko B., Stöckler-Ipsiroglu S., Paschke E., et al. Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol 2000, 48:121-125.
46. Plecko B., Hikel C., Korenke G.C., et al. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics 2005, 36:200-205.
47. Plecko B., Paul K., Paschke E., et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy. Hum Mutat 2007, 28:19-26.
48. Rankin P., Harrison S., Chong W.K., et al. Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol 2007, 49:300-305.
49. Ruiz A., García-Villoria J., Ormazabal A., et al. A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. Mol Genet Metab 2008, 93:216-218.
50. Sadilkova K., Gospe S.M., Hahn S.H. Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures. J Neurosci Methods 2009, 184:136-141.
51. Salomons G.S., Bok L.A., Struys E.A., et al. An intriguing " silent" mutation and a founder effect in antiquitin (ALDH7A1). Ann Neurol 2007, 62:414-418.
52. Sia C., Wapnir R., Sokal M., et al. Effects of pyridoxine on neonatal hypophosphatasia. Pediatr Res 1975, 9:355.
53. Striano P., Battaglia S., Giordano L., et al. Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. Epilepsia 2009, 50:933-936.
54. Struys E.A., Jakobs C. Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency. Mol Genet Metab 2007, 91:405.
55. Synderman S.E., Holt L.E., Carretero R., et al. Pyridoxine deficiency in the human infant. American J Clin Nutr 1953, 1:200-207.
56. Torres O.A., Miller V.S., Buist N.M., et al. Folinic-acid responsive neonatal seizures. J Child Neurol 1999, 14:529-532.
57. Wang H.S., Kuo F.M., Chou M.L., et al. Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy. Arch Dis Child 2005, 90:512-515.