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Text
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URL Address
<a href="http://doi.org/10.1007/s10545-009-1045-8" target="_blank" rel="noreferrer">http://doi.org/10.1007/s10545-009-1045-8</a>
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Title
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New treatment paradigms in neonatal metabolic epilepsies.
Publisher
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Journal Of Inherited Metabolic Disease
Date
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2009
Subject
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Humans; infant; Newborn; Brain Diseases; Metabolic; Electroencephalography; KT Synthesis; Brain Diseases; Epilepsy/th [Therapy]; Epilepsy/cn [Congenital]; Epilepsy/ge [Genetics]; Inborn/ge [Genetics]; Inborn/th [Therapy]; Pyridoxine/ph [Physiology]; Seizures/cn [Congenital]; Seizures/et [Etiology]; Seizures/th [Therapy]; Vitamin B 6 Deficiency/ge [Genetics]; Vitamin B 6 Deficiency/pp [Physiopathology]
Creator
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Pearl PL
Description
An account of the resource
Neonatal seizures represent a major challenge among the epilepsies vis-a-vis seizure classification, electroclinical correlation, inherent excitability of neocortex, ontogenic characteristics of neurotransmitter receptors, and responsiveness to standard antiepileptic drugs. Each of these factors renders neonatal seizures more difficult to treat, and therapy has been a vexing area for recent advances in this seizure category. Conversely, specific metabolic disorders have very special therapeutic considerations in the clinical setting of neonatal seizures which require a high index of clinical suspicion and rapid intervention for a successful outcome. The prototype is pyridoxine dependency, although pyridoxal 5'-phosphate dependency is a recently recognized but treatable neonatal epilepsy that deserves earmarked distinction. Clinicians must remain vigilant for these possibilities, including atypical cases where apparent seizure-free intervals may occur. Folinic acid-dependent seizures are allelic with pyridoxine dependency. Serine-dependent seizures and glucose transporter deficiency may present with neonatal seizures and have specific therapy. A vital potassium channel regulated by serum ATP/ADP ratios in the pancreas and brain may be mutated with a resultant neuroendocrinopathy characterized by development delay, epilepsy, and neonatal diabetes (DEND). This requires oral hypoglycaemic therapy, and not insulin, for neurological responsiveness. The startle syndrome of hyperekplexia, which mimics neonatal epilepsy, has been associated with laryngospasm and sudden death but is treated with benzodiazepines.
2009
Identifier
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<a href="http://doi.org/10.1007/s10545-009-1045-8" target="_blank" rel="noreferrer">10.1007/s10545-009-1045-8</a>
Rights
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
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Journal Article
2009
Backlog
Brain Diseases
Electroencephalography
Epilepsy/cn [Congenital]
Epilepsy/ge [Genetics]
Epilepsy/th [Therapy]
Humans
Inborn/ge [Genetics]
Inborn/th [Therapy]
Infant
Journal Article
Journal Of Inherited Metabolic Disease
KT Synthesis
Metabolic
Newborn
Pearl PL
Pyridoxine/ph [Physiology]
Seizures/cn [Congenital]
Seizures/et [Etiology]
Seizures/th [Therapy]
Vitamin B 6 Deficiency/ge [Genetics]
Vitamin B 6 Deficiency/pp [Physiopathology]