The Effects of a Single Oral Dose of Pyridoxine on Alpha-Aminoadipic Semialdehyde, Piperideine-6-Carboxylate, Pipecolic Acid, and Alpha-Aminoadipic Acid Levels in Pyridoxine-Dependent Epilepsy [PDF]
Frontiers in Pediatrics, 2019 Purpose: To evaluate the effects of a single oral dose of pyridoxine on lysine metabolites including α-aminoadipic semialdehyde (a-AASA), piperideine-6-carboxylate (P6C), the sum of AASA and P6C (AASA-P6C), pipecolic acid (PA), and α-aminoadipic acid (α ...
Junjuan Wang +13 more
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Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study [PDF]
Frontiers in NeurologyPurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Vibeke Arntsen +14 more
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Biomarker Profiling for Pyridoxine Dependent Epilepsy in Dried Blood Spots by HILIC-ESI-MS [PDF]
International Journal of Analytical Chemistry, 2018 Pyridoxine dependent epilepsy is a condition where the affected infant or child has prolonged seizures (status epilepticus), which are nonresponsive to anticonvulsant therapy but can be treated with pharmacological doses of pyridoxine.
Elizabeth Mary Mathew +3 more
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Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines [PDF]
JIMD ReportsPyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management.
Marjorie Dixon +7 more
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Late diagnosis of pyridoxine-dependent epilepsy in two adolescent siblings [PDF]
Annals of Indian Academy of Neurology, 2021 Sedat Işıkay
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Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy [PDF]
Molecular Therapy: Nucleic AcidsMustafa A. Salih
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Epilepsy & Behavior Reports, 2022 Copy number variations (CNVs) have been related to developmental and epileptic encephalopathy (DEE). The 2q24.3 region includes a cluster of genes for voltage-gated sodium channels (SCN) and CNVs in this region cause DEE. However, the long-term course of
Takuya Masuda +8 more
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Callosal alterations in pyridoxine‐dependent epilepsy [PDF]
Developmental Medicine & Child Neurology, 2014 AimWhile there have been isolated reports of callosal morphology differences in pyridoxine‐dependent epilepsy (PDE), a rare autosomal disorder caused by ALDH7A1 gene mutations, no study has systematically evaluated callosal features in a large sample of patients.
Friedman, S.D. +9 more
openaire +3 more sources
Long-term follow-up of an individual with vitamin B6-dependent seizures [PDF]
, 1999 We report on a 31-year-old female with vitamin B6-dependent seizures whose seizure onset was in the neonatal period. Her elder brother had the same disorder and died in infancy. Administration of vitamin B6 was initiated in the postnatal period.
Ohtsuka, Yoko +4 more
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Frontiers in Genetics, 2022 Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6–dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5′-phosphate oxidase ...
Xianru Jiao +4 more
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