Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study
Background: Pyridoxine monotherapy in PDE-ALDH7A1 often results in adequate seizure control, but neurodevelopmental outcome varies. Detailed long-term neurological outcome is unknown. Here we present the cognitive and neurological features of the Dutch PDE-ALDH7A1 cohort. Methods: Neurological outcome was assessed in 24 patients (age 1-26 years); classified as normal, complex minor neurological dysfunction (complex MND) or abnormal. Intelligence quotient (IQ) was derived from standardized IQ tests with five severity levels of intellectual disability (ID). MRI's and treatments were assessed. Re... Mehr ...
Verfasser: |
Strijker, M.
Tseng, L. A.
van Avezaath, L. K.
Luttikhuis, M. A. M. Oude
Ketelaar, T.
Coughlin, C. R.
Coenen, M. A.
van Spronsen, F. J.
Williams, M.
de Vries, M. C.
Westerlaan, H. E.
Bok, L. A.
van Karnebeek, C. D. M.
Lunsing, R. J. |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2021 |
Reihe/Periodikum: |
Strijker , M , Tseng , L A , van Avezaath , L K , Luttikhuis , M A M O , Ketelaar , T , Coughlin , C R , Coenen , M A , van Spronsen , F J , Williams , M , de Vries , M C , Westerlaan , H E , Bok , L A , van Karnebeek , C D M & Lunsing , R J 2021 , ' Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study ' , European Journal of Paediatric Neurology , vol. 33 , pp. 112-120 . https://doi.org/10.1016/j.ejpn.2021.06.001 |
Schlagwörter: |
Pyridoxine-dependent epilepsy
/ Vitamin B6
/ Neurological outcome
/ Lysine reduction therapies
/ Intellectual disability
/ MRI
/ LYSINE-RESTRICTED DIET
/ ARGININE SUPPLEMENTATION
/ SEIZURES
/ THERAPY
/ MUTATIONS
/ ANTIQUITIN
/ PHENOTYPE
/ DIAGNOSIS
/ LEADS |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-26671551 |
Datenquelle: |
BASE;
Originalkatalog |
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BASE |
Link(s) :
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https://hdl.handle.net/11370/b0c964d1-abaa-4bf1-ab37-cd095d9d4a9b |