Seizures and paroxysmal events: Symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency

Developmental Medicine and Child Neurology

Volumn 52, Issue 7, 2010, Pages

  Schmitt, Bernhard ^a   Baumgartner, Matthias ^a   Mills, Philippa B ^b   Clayton, Peter T ^b   Jakobs, Cornelis ^c   Keller, Elmar ^d   Wohlrab, Gabriele ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Children's Hospital Chur   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

PHENOBARBITAL; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE; VALPROIC ACID; VIGABATRIN;

APNEA; ARTICLE; AUTOMATISM; CARDIOTOCOGRAPHY; CHILD; CLINICAL ARTICLE; CRYING; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; EPILEPSY; EXON; EYE MOVEMENT DISORDER; FACIAL EXPRESSION; FEMALE; FLUSHING; FOLLOW UP; GENE DELETION; GENE MUTATION; HICCUP; HUMAN; HYPEREKPLEXIA; IRRITABILITY; MALE; NYSTAGMUS; OPISTHOTONUS; PARESTHESIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SEIZURE; SLEEP DISORDER; SWEATING; TREATMENT RESPONSE; TREMOR; UNCONSCIOUSNESS; VIDEORECORDING; VISUAL DISORDER;

ALDEHYDE DEHYDROGENASE; ANTICONVULSANTS; BRAIN; BRAIN DISEASES, METABOLIC; DIAGNOSIS, DIFFERENTIAL; ELECTROENCEPHALOGRAPHY; EPILEPSY; EYE MOVEMENTS; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION; PYRIDOXAL PHOSPHATE; PYRIDOXAMINEPHOSPHATE OXIDASE; PYRIDOXINE; RETROSPECTIVE STUDIES; SEIZURES; TREATMENT OUTCOME; VIDEO RECORDING;

EID: 77954645270     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03660.x     Document Type: Article

References (25)

1. Mills PB, Struys E, Jakobs C. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006, 12:307-9.
2. Mills PB, Surtees RA, Champion MP. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum Mol Genet 2005, 14:1077-86.
3. Plecko B, Hikel C, Korenke GC. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics 2005, 36:200-5.
4. Gallagher RC, Van Hove JL, Scharer G. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 2009, 65:550-6.
5. Schmitt B, Wohlrab G, Sander T, Steinlein OK, Hajnal BL. Neonatal seizures with tonic clonic sequences and poor developmental outcome. Epilepsy Res 2005, 65:161-8.
6. Hoffmann GF, Schmitt B, Windfuhr M. Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 2007, 30:96-9.
7. Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia 2009, 50:1167-75.
8. Kruse R, Kochen W, Feist D. [Clinical and biochemical studies in pyridoxine-dependent seizures]. Neuropadiatrie 1972, 3:272-93. (In French)
9. Bankier A, Turner M, Hopkins IJ. Pyridoxine dependent seizures-a wider clinical spectrum. Arch Dis Child 1983, 58:415-8.
10. Haenggeli CA, Girardin E, Paunier L. Pyridoxine-dependent seizures, clinical and therapeutic aspects. Eur J Pediatr 1991, 150:452-5.
11. Mikati MA, Trevathan E, Krishnamoorthy KS, Lombroso CT. Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up. Electroencephalogr Clin Neurophysiol 1991, 78:215-21.
12. Tanaka R, Okumura M, Arima J, Yamakura S, Momoi T. Pyridoxine-dependent seizures: report of a case with atypical clinical features and abnormal MRI scans. J Child Neurol 1992, 7:24-8.
13. Gospe SM, Olin KL, Keen CL. Reduced GABA synthesis in pyridoxine-dependent seizures. Lancet 1994, 343:1133-4.
14. Baxter P, Griffiths P, Kelly T, Gardner-Medwin D. Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 1996, 38:998-1006.
15. Nabbout R, Soufflet C, Plouin P, Dulac O. Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed 1999, 81:F125-9.
16. Ohtsuka Y, Hattori J, Ishida T, Ogino T, Oka E. Long-term follow-up of an individual with vitamin B6-dependent seizures. Dev Med Child Neurol 1999, 41:203-6.
17. Hellstrom-Westas L, Blennow G, Rosen I. Amplitude-integrated encephalography in pyridoxine-dependent seizures and pyridoxine-responsive seizures. Acta Paediatr 2002, 91:977-80.
18. Brautigam C, Hyland K, Wevers R. Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency. Neuropediatrics 2002, 33:113-7.
19. Rankin PM, Harrison S, Chong WK, Patient S, Aylett SE. Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol 2007, 49:300-5.
20. Kluger G, Blank R, Paul K. Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. Neuropediatrics 2008, 39:276-9.
21. Clayton PT, Surtees RA, DeVile C, Hyland K, Heales SJ. Neonatal epileptic encephalopathy. Lancet 2003, 361:1614.
22. Mizrahi EM, Kellaway P. Characterization and classification of neonatal seizures. Neurology 1987, 37:1837-44.
23. Swoboda KJ, Hyland K, Goldstein DS. Clinical and therapeutic observations in aromatic L-amino acid decarboxylase deficiency. Neurology 1999, 53:1205-11.
24. Pons R, Ford B, Chiriboga CA. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology 2004, 62:1058-65.
25. Lombroso CT. Neonatal polygraphy in full-term and premature infants: a review of normal and abnormal findings. J Clin Neurophysiol 1985, 2:105-55.