Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

R. L. P. de Rooy; F. J. Halbertsma; E. A. Struijs; F. J. van Spronsen; R. J. Lunsing; H. M. Schippers; P. M. van Hasselt; B. Plecko; G. Wohlrab; S. Whalen; J. F. Benoist; S. Valence; P. B. Mills; L. A. Bok

doi:10.1016/j.ejpn.2018.03.009

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

R. L. P. de Rooy, F. J. Halbertsma, E. A. Struijs, F. J. van Spronsen, R. J. Lunsing, H. M. Schippers, P. M. van Hasselt, B. Plecko, G. Wohlrab, S. Whalen, J. F. Benoist, S. Valence, P. B. Mills, L. A. Bok^*

^*Corresponding author voor dit werk

Onderzoeksoutput: Article › Academic › peer review

18 Citaten (Scopus)

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Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. Received 21 March 2017 A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the Received in revised form observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients.

Methods: We retrospectively analyzed data from four metabolically and genetically Accepted 25 March 2018 confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (alpha-AASA) and Keywords: pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount Pyridoxine dependent epilepsy of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI.

Results: Results showed that three patients had relatively good outcome (IQ 80-97), while one patient did not undergo formal testing and was considered mildly delayed. We were unable to find a clear association between the above-mentioned variables and cognitive outcome, although a less severe genotype may be present in three patients, and maternal medication could be accountable for better outcome in two patients.

Interpretation: We suggest that favorable outcome in late onset PDE might be explained by a combination of factors. A yet unknown protective factor, different genetic variations, functional variation and secondarily variation in treatment regimens and absence of neonatal seizure induced brain damage. (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Originele taal-2	English
Pagina's (van-tot)	662-666
Aantal pagina's	5
Tijdschrift	European Journal of Paediatric Neurology
Volume	22
Nummer van het tijdschrift	4
DOI's	https://doi.org/10.1016/j.ejpn.2018.03.009
Status	Published - jul.-2018

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de Rooy, R. L. P., Halbertsma, F. J., Struijs, E. A., van Spronsen, F. J., Lunsing, R. J., Schippers, H. M., van Hasselt, P. M., Plecko, B., Wohlrab, G., Whalen, S., Benoist, J. F., Valence, S., Mills, P. B., & Bok, L. A. (2018). Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? European Journal of Paediatric Neurology, 22(4), 662-666. https://doi.org/10.1016/j.ejpn.2018.03.009

@article{aee35e7c8d1e4f9bb63137f4e228fdc7,

title = "Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?",

abstract = "Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. Received 21 March 2017 A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the Received in revised form observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients.Methods: We retrospectively analyzed data from four metabolically and genetically Accepted 25 March 2018 confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (alpha-AASA) and Keywords: pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount Pyridoxine dependent epilepsy of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI.Results: Results showed that three patients had relatively good outcome (IQ 80-97), while one patient did not undergo formal testing and was considered mildly delayed. We were unable to find a clear association between the above-mentioned variables and cognitive outcome, although a less severe genotype may be present in three patients, and maternal medication could be accountable for better outcome in two patients.Interpretation: We suggest that favorable outcome in late onset PDE might be explained by a combination of factors. A yet unknown protective factor, different genetic variations, functional variation and secondarily variation in treatment regimens and absence of neonatal seizure induced brain damage. (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.",

keywords = "Pyridoxine dependent epilepsy, Late onset, SEIZURES, ANTIQUITIN, DIAGNOSIS, DISEASE, COHORT",

author = "{de Rooy}, {R. L. P.} and Halbertsma, {F. J.} and Struijs, {E. A.} and {van Spronsen}, {F. J.} and Lunsing, {R. J.} and Schippers, {H. M.} and {van Hasselt}, {P. M.} and B. Plecko and G. Wohlrab and S. Whalen and Benoist, {J. F.} and S. Valence and Mills, {P. B.} and Bok, {L. A.}",

year = "2018",

month = jul,

doi = "10.1016/j.ejpn.2018.03.009",

language = "English",

volume = "22",

pages = "662--666",

journal = "European Journal of Paediatric Neurology",

issn = "1090-3798",

publisher = "ELSEVIER SCI LTD",

number = "4",

}

de Rooy, RLP, Halbertsma, FJ, Struijs, EA, van Spronsen, FJ , Lunsing, RJ, Schippers, HM, van Hasselt, PM, Plecko, B, Wohlrab, G, Whalen, S, Benoist, JF, Valence, S, Mills, PB & Bok, LA 2018, 'Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?', European Journal of Paediatric Neurology, vol. 22, nr. 4, blz. 662-666. https://doi.org/10.1016/j.ejpn.2018.03.009

TY - JOUR

T1 - Pyridoxine dependent epilepsy

T2 - Is late onset a predictor for favorable outcome?

AU - de Rooy, R. L. P.

AU - Halbertsma, F. J.

AU - Struijs, E. A.

AU - van Spronsen, F. J.

AU - Lunsing, R. J.

AU - Schippers, H. M.

AU - van Hasselt, P. M.

AU - Plecko, B.

AU - Wohlrab, G.

AU - Whalen, S.

AU - Benoist, J. F.

AU - Valence, S.

AU - Mills, P. B.

AU - Bok, L. A.

PY - 2018/7

Y1 - 2018/7

N2 - Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. Received 21 March 2017 A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the Received in revised form observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients.Methods: We retrospectively analyzed data from four metabolically and genetically Accepted 25 March 2018 confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (alpha-AASA) and Keywords: pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount Pyridoxine dependent epilepsy of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI.Results: Results showed that three patients had relatively good outcome (IQ 80-97), while one patient did not undergo formal testing and was considered mildly delayed. We were unable to find a clear association between the above-mentioned variables and cognitive outcome, although a less severe genotype may be present in three patients, and maternal medication could be accountable for better outcome in two patients.Interpretation: We suggest that favorable outcome in late onset PDE might be explained by a combination of factors. A yet unknown protective factor, different genetic variations, functional variation and secondarily variation in treatment regimens and absence of neonatal seizure induced brain damage. (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

AB - Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. Received 21 March 2017 A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the Received in revised form observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients.Methods: We retrospectively analyzed data from four metabolically and genetically Accepted 25 March 2018 confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (alpha-AASA) and Keywords: pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount Pyridoxine dependent epilepsy of seizures, pyridoxine dose, adjuvant therapy and findings on brain MRI.Results: Results showed that three patients had relatively good outcome (IQ 80-97), while one patient did not undergo formal testing and was considered mildly delayed. We were unable to find a clear association between the above-mentioned variables and cognitive outcome, although a less severe genotype may be present in three patients, and maternal medication could be accountable for better outcome in two patients.Interpretation: We suggest that favorable outcome in late onset PDE might be explained by a combination of factors. A yet unknown protective factor, different genetic variations, functional variation and secondarily variation in treatment regimens and absence of neonatal seizure induced brain damage. (C) 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

KW - Pyridoxine dependent epilepsy

KW - Late onset

KW - SEIZURES

KW - ANTIQUITIN

KW - DIAGNOSIS

KW - DISEASE

KW - COHORT

U2 - 10.1016/j.ejpn.2018.03.009

DO - 10.1016/j.ejpn.2018.03.009

M3 - Article

SN - 1090-3798

VL - 22

SP - 662

EP - 666

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

IS - 4

ER -

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

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