Levinus A Bok

Summary

Country: The Netherlands

Publications

  1. ncbi Long-term outcome in pyridoxine-dependent epilepsy
    Levinus A Bok
    Department of Pediatrics, Maxima Medical Center, Veldhoven, The Netherlands
    Dev Med Child Neurol 54:849-54. 2012
  2. ncbi Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
    Levinus A Bok
    Department of Paediatrics, Maxima Medical Center, Veldhoven, The Netherlands
    Arch Dis Child 92:687-9. 2007
  3. ncbi Antenatal treatment in two Dutch families with pyridoxine-dependent seizures
    Levinus A Bok
    Department of Paediatrics, Maxima Medical Centre, P O Box 7777, 5500 MB, Veldhoven, The Netherlands
    Eur J Pediatr 169:297-303. 2010
  4. ncbi The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy
    Levinus A Bok
    Department of Pediatrics, Maxima Medical Center, Veldhoven, The Netherlands
    Epilepsia 51:2406-11. 2010
  5. ncbi Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
    Clara D M van Karnebeek
    Division of Biochemical Diseases, Department of Pediatrics, BC Children s Hospital, University of British Columbia, Vancouver, Canada
    Mol Genet Metab 107:335-44. 2012
  6. ncbi Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures
    Jasper V Been
    Arq Neuropsiquiatr 66:288; author reply 288-9. 2008
  7. ncbi An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)
    Gajja S Salomons
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 62:414-8. 2007
  8. ncbi Extensive cerebral infarction in the newborn due to incontinentia pigmenti
    Femke Maingay-de Groof
    Neonatal Intensive Care Unit, Erasmus MC Sophia Rotterdam, The Netherlands
    Eur J Paediatr Neurol 12:284-9. 2008

Collaborators

  • Sylvia Stockler
  • Sidney M Gospe
  • Feico J Halbertsma
  • Mona C Toet
  • E A Struys
  • P T Clayton
  • Gajja S Salomons
  • Clara D M van Karnebeek
  • Cornelis Jakobs
  • Femke Maingay-de Groof
  • Jasper V Been
  • Barb Cheng
  • Hans Hartmann
  • Sravan Jaggumantri
  • Anibh M Das
  • Johanna H van der Lee
  • Jean Paul Collet
  • Curtis R Coughlin
  • Barbara R Plecko
  • Mary Connolly
  • Graham Sinclair
  • Saadet Mercimek-Mahmutoglu
  • Johan Van Hove
  • Uta Meyer
  • Maarten H Lequin
  • Daniella W Roofthooft
  • Paul P Govaert
  • Arnold P Oranje
  • Peter J van der Spek
  • Irenaeus F de Coo
  • Grazia M Mancini

Detail Information

Publications8

  1. ncbi Long-term outcome in pyridoxine-dependent epilepsy
    Levinus A Bok
    Department of Pediatrics, Maxima Medical Center, Veldhoven, The Netherlands
    Dev Med Child Neurol 54:849-54. 2012
    ..The long-term outcome of the Dutch pyridoxine-dependent epilepsy cohort and correlations between patient characteristics and follow-up data were retrospectively studied...
  2. ncbi Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
    Levinus A Bok
    Department of Paediatrics, Maxima Medical Center, Veldhoven, The Netherlands
    Arch Dis Child 92:687-9. 2007
    ..Recently alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was identified as a major cause of PDS, which causes accumulation of both alpha-AASA and pipecolic acid (PA) in body fluids...
  3. ncbi Antenatal treatment in two Dutch families with pyridoxine-dependent seizures
    Levinus A Bok
    Department of Paediatrics, Maxima Medical Centre, P O Box 7777, 5500 MB, Veldhoven, The Netherlands
    Eur J Pediatr 169:297-303. 2010
    ..These results suggest that antenatal pyridoxine supplementation may be effective in preventing intrauterine seizures, decreasing the risk of complicated birth and improving neurodevelopmental outcome in PDS...
  4. ncbi The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy
    Levinus A Bok
    Department of Pediatrics, Maxima Medical Center, Veldhoven, The Netherlands
    Epilepsia 51:2406-11. 2010
    ..Prompt recognition of PDE is important for treatment and prognosis of seizures. We aimed to determine whether immediate electroencephalography (EEG) alterations by pyridoxine-IV can identify PDE in neonates with TRS...
  5. ncbi Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
    Clara D M van Karnebeek
    Division of Biochemical Diseases, Department of Pediatrics, BC Children s Hospital, University of British Columbia, Vancouver, Canada
    Mol Genet Metab 107:335-44. 2012
    ....
  6. ncbi Mutations in the ALDH7A1 gene cause pyridoxine-dependent seizures
    Jasper V Been
    Arq Neuropsiquiatr 66:288; author reply 288-9. 2008
  7. ncbi An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)
    Gajja S Salomons
    Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
    Ann Neurol 62:414-8. 2007
    ..Here, we report an intriguing "silent" mutation in ALDH7A1, a novel missense mutation and a founder mutation in a Dutch cohort (10 patients) with alpha-AASA dehydrogenase deficiency...
  8. ncbi Extensive cerebral infarction in the newborn due to incontinentia pigmenti
    Femke Maingay-de Groof
    Neonatal Intensive Care Unit, Erasmus MC Sophia Rotterdam, The Netherlands
    Eur J Paediatr Neurol 12:284-9. 2008
    ..Vascular occlusive phenomena probably play a role in CNS involvement. Whether these vascular changes are based on macro- or microvascular disease in the neonatal presentation is not fully understood...