de Rooy, RLP;
Halbertsma, FJ;
Struijs, EA;
van Spronsen, FJ;
Lunsing, RJ;
Schippers, HM;
van Hasselt, PM;
... Bok, LA; + view all
(2018)
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
European Journal of Paediatric Neurology
, 22
(4)
pp. 662-666.
10.1016/j.ejpn.2018.03.009.
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Abstract
Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup of late-onset PDE patients Methods: We retrospectively analyzed data from four metabolically and genetically confirmed late-onset patients with PDE due to antiquitin (ALDH7A1) deficiency. Data were analyzed regarding ALDH7A1 mutations, alpha-Aminoadipic semialdehyde (α-AASA) and pipecolic acid (PA) levels, medication during pregnancy, delivery, treatment delay, amount 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.
| Type: | Article |
|---|---|
| Title: | Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.ejpn.2018.03.009 |
| Publisher version: | http://doi.org/10.1016/j.ejpn.2018.03.009 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10059101 |
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