Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine

Kuo, Meng-Fai; Wang, Huei-Shyong

doi:10.1016/s0887-8994(01)00357-5

Cited by 68 publications

(45 citation statements)

References 11 publications

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“…Moreover, GAD67 is more ubiquitously distributed within neurons and associated with the synthesis of GABA released. PLP is a cofactor for GAD67 and its deficiency can induce neonatal epileptic encephalopathy [54]. Because GAD67 acts as the major catalyst of GABA production [51, 52], a deficit in GAD67-mediated GABA synthesis is likely to reduce the GABAergic inhibition in the brain.…”

Section: Discussionmentioning

confidence: 99%

Extracellular HMGB1 Modulates Glutamate Metabolism Associated with Kainic Acid-Induced Epilepsy-Like Hyperactivity in Primary Rat Neural Cells

Kaneko

Pappas²,

Malapira

et al. 2017

Cell Physiol Biochem

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Background/Aims: Neuroinflammatory processes have been implicated in the pathophysiology of seizure/epilepsy. High mobility group box 1 (HMGB1), a non-histone DNA binding protein, behaves like an inflammatory cytokine in response to epileptogenic insults. Kainic acid (KA) is an excitotoxic reagent commonly used to induce epilepsy in rodents. However, the molecular mechanism by which KA-induced HMGB1 affords the initiation of epilepsy, especially the role of extracellular HMGB1 in neurotransmitter expression, remains to be elucidated. Methods: Experimental early stage of epilepsy-related hyperexcitability was induced in primary rat neural cells (PRNCs) by KA administration. We measured the localization of HMGB1, cell viability, mitochondrial activity, and expression level of glutamate metabolism-associated enzymes. Results: KA induced the translocation of HMGB1 from nucleus to cytosol, and its release from the neural cells. The translocation is associated with post-translational modifications. An increase in extracellular HMGB1 decreased PRNC cell viability and mitochondrial activity, downregulated expression of glutamate decarboxylase67 (GAD67) and glutamate dehydrogenase (GLUD1/2), and increased intracellular glutamate concentration and major histocompatibility complex II (MHC II) level. Conclusions: That a surge in extracellular HMGB1 approximated seizure initiation suggests a key pathophysiological contribution of HMGB1 to the onset of epilepsy-related hyperexcitability.

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Section: Discussionmentioning

confidence: 99%

Extracellular HMGB1 Modulates Glutamate Metabolism Associated with Kainic Acid-Induced Epilepsy-Like Hyperactivity in Primary Rat Neural Cells

Kaneko

Pappas²,

Malapira

et al. 2017

Cell Physiol Biochem

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“…Two additional infants2 3 and six older children with intractable seizures responsive to PLP but not to pyridoxine7 have been described. Molecular studies in these children have not been reported.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, three infants with pyridoxine-non-responsive NEE were described, who responded to pyridoxal-5′-phosphate (PLP) 2 – 4. Cellular deficiency of PLP based on deficient conversion of pyridoxine to PLP was postulated to cause NEE in these infants, and a homozygous mutation in the pyridox(am)ine-5′-phosphate oxidase (PNPO) gene was identified in one of these patients 4…”

mentioning

confidence: 99%

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

Bağcı

Zschocke

Hoffmann

et al. 2007

Archives of Disease in Childhood - Fetal and Neonatal Edition

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Pyridox(am)ine-5'-phosphate oxidase converts pyridoxine phosphate and pyridoxamine phosphate to pyridoxal phosphate, a cofactor in many metabolic reactions, including neurotransmitter synthesis. A family with a mutation in the pyridox(am)ine-5'-phosphate oxidase gene presenting with neonatal seizures unresponsive to pyridoxine and anticonvulsant treatment but responsive to pyridoxal phosphate is described. Pyridoxal phosphate should be considered in neonatal epileptic encephalopathy unresponsive to pyridoxine.

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“…The daily administration of 50-200 mg (given once daily or in two divided doses) is generally effective in preventing seizures in most patients (Gospe 2010). Pyridoxal phosphate (PLP) dependent epilepsy is characterized by neonatal seizures refractory both to conventional AEDs and pyridoxine administration (Kuo and Wang 2002). Instead, individuals with this type of epilepsy are responsive to large daily doses of pyridoxal 5′-phosphate (30 mg/kg/day in three or four divided doses enterally) (Hoffmann et al 2007).…”

Section: Vitamin B Response Epileptic Seizuresmentioning

confidence: 99%

Metabolic Causes of Epilepsy

Papetti

Nicita

Maiolo

et al. 2014

Contemporary Clinical Neuroscience

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Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signatures. The diagnosis of a genetic defect or an inborn error of metabolism often results in requests for a vast array of biochemical and molecular tests leading to an expensive workup. However a specific diagnosis of metabolic disorders in epileptic patients may provide the possibility of specific treatments that can improve seizures. In a few metabolic diseases, epilepsy responds to specific treatments based on diet or supplementation of cofactors (vitamin-responsive epilepsies), but for most of them specific treatment is unfortunately not available, and conventional antiepileptic drugs must be used, often with no satisfactory success. In this review we present an overview of metabolic epilepsies based on various criteria such as treatability, age of onset, seizure type, and pathogenetic background.

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Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine

Cited by 68 publications

References 11 publications

Extracellular HMGB1 Modulates Glutamate Metabolism Associated with Kainic Acid-Induced Epilepsy-Like Hyperactivity in Primary Rat Neural Cells

Extracellular HMGB1 Modulates Glutamate Metabolism Associated with Kainic Acid-Induced Epilepsy-Like Hyperactivity in Primary Rat Neural Cells

Pyridoxal phosphate-dependent neonatal epileptic encephalopathy

Metabolic Causes of Epilepsy

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