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
doaj +2 more sources
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
doaj +2 more sources
Pyridoxine-dependent epilepsy initially responsive to phenobarbital Epilepsia por dependência de piridoxina inicialmente responsiva ao fenobarbital [PDF]
Arquivos de Neuro-Psiquiatria, 2007 Pyridoxine-dependent epilepsy is a rare autossomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine.
Jaime Lin +3 more
doaj +5 more sources
A case for newborn screening for pyridoxine-dependent epilepsy. [PDF]
Cold Spring Harb Mol Case Stud, 2022 Pyridoxine dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly treatable developmental and epileptic encephalopathy. Pharmacologic doses of pyridoxine are associated with dramatic clinical seizure improvement and most patient achieve adequate seizure control with pyridoxine alone.
Coughlin CR +2 more
europepmc +5 more sources
Late diagnosis of pyridoxine-dependent epilepsy in two adolescent siblings [PDF]
Annals of Indian Academy of Neurology, 2021 Sedat Işıkay
doaj +2 more sources
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
doaj +1 more source
Potential of AON therapy targeting AASS: A promising molecular therapy for pyridoxine-dependent epilepsy [PDF]
Molecular Therapy: Nucleic AcidsMustafa A. Salih
doaj +2 more sources
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
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy [PDF]
Journal of Inherited Metabolic Disease, 2019 Michael Swanson +2 more
exaly +2 more sources
, 2022 The aim of this thesis is to provide and discuss evidence that enables informed decision making on inclusion of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in newborn screening programs.PDE-ALDH7A1 is a neurometabolic disorder of lysine catabolism, characterized by (neonatal) seizures.
Saadet Mercimek-Andrews, Cecil D. Hahn
openaire +4 more sources