1
40
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1002/phar.1201" target="_blank" rel="noreferrer">http://doi.org/10.1002/phar.1201</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Neurogenetic disorders and treatment of associated seizures.
Publisher
An entity responsible for making the resource available
Pharmacotherapy
Date
A point or period of time associated with an event in the lifecycle of the resource
2013
Subject
The topic of the resource
Humans; Treatment Outcome; Epilepsies; Angelman Syndrome/dt [Drug Therapy]; Anticonvulsants/tu [Therapeutic Use]; Epilepsies; Rett Syndrome/dt [Drug Therapy]; Seizures/dt [Drug Therapy]; Tuberous Sclerosis/dt [Drug Therapy]; Angelman Syndrome/co [Complications]; Anticonvulsants/ad [Administration & Dosage]; Anticonvulsants/ae [Adverse Effects]; KT Synthesis; Myoclonic/co [Complications]; Myoclonic/dt [Drug Therapy]; Rett Syndrome/co [Complications]; Seizures/co [Complications]; Tuberous Sclerosis/co [Complications]
Creator
An entity primarily responsible for making the resource
Faulkner MA; Singh Sanjay P
Description
An account of the resource
Seizures are a frequent complication associated with several neurogenetic disorders. Antiepileptic medications remain the mainstay of treatment in these patients. We summarized the available data associated with various antiepileptic therapies used to treat patients with neurogenetic disorders who experienced recurrent seizures. A MEDLINE search was conducted to identify articles and abstracts describing the use of antiepileptic therapy for the treatment of various neurogenetic syndromes. Of all the neurogenetic syndromes, only autism spectrum disorders, Angelman syndrome, Rett syndrome, Dravet syndrome, and tuberous sclerosis complex were identified as having sufficient published information to evaluate therapy. Some efficacy trends were identified, including frequent successes with valproic acid with clonazepam for epilepsy with Angelman syndrome; valproic acid, stiripentol, and clobazam (triple combination therapy) for epilepsy with Dravet syndrome; and vigabatrin for infantile spasms associated with tuberous sclerosis complex. Due to a paucity of information regarding the mechanisms by which seizures are generated in the various disorders, approach to seizure control is primarily based on clinical experience and a limited amount of study data exploring patient outcomes. Although exposure of the developing brain to antiepileptic medications is of some concern, the control of epileptic activity is an important undertaking in these individuals, as the severity of eventual developmental delay often appears to correlate with the severity of seizures. As such, early aggressive therapy is warranted. 2013 Pharmacotherapy Publications, Inc.
2013
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/phar.1201" target="_blank" rel="noreferrer">10.1002/phar.1201</a>
Rights
Information about rights held in and over the resource
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
The nature or genre of the resource
Journal Article
2013
Angelman Syndrome/co [Complications]
Angelman Syndrome/dt [Drug Therapy]
Anticonvulsants/ad [Administration & Dosage]
Anticonvulsants/ae [Adverse Effects]
Anticonvulsants/tu [Therapeutic Use]
Backlog
Epilepsies
Faulkner MA
Humans
Journal Article
KT Synthesis
Myoclonic/co [Complications]
Myoclonic/dt [Drug Therapy]
Pharmacotherapy
Rett Syndrome/co [Complications]
Rett Syndrome/dt [Drug Therapy]
Seizures/co [Complications]
Seizures/dt [Drug Therapy]
Singh Sanjay P
Treatment Outcome
Tuberous Sclerosis/co [Complications]
Tuberous Sclerosis/dt [Drug Therapy]
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
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>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
New treatment paradigms in neonatal metabolic epilepsies.
Publisher
An entity responsible for making the resource available
Journal Of Inherited Metabolic Disease
Date
A point or period of time associated with an event in the lifecycle of the resource
2009
Subject
The topic of the resource
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
An entity primarily responsible for making the resource
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
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s10545-009-1045-8" target="_blank" rel="noreferrer">10.1007/s10545-009-1045-8</a>
Rights
Information about rights held in and over the resource
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
The nature or genre of the resource
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]
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Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1007/s11910-005-0010-7" target="_blank" rel="noreferrer">http://doi.org/10.1007/s11910-005-0010-7</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Seizures and metabolic disease.
Publisher
An entity responsible for making the resource available
Current Neurology And Neuroscience Reports
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Humans; KT Synthesis; Seizures/th [Therapy]; Metabolic Diseases/di [Diagnosis]; Metabolic Diseases/me [Metabolism]; Seizures/di [Diagnosis]; Seizures/me [Metabolism]; Anticonvulsants/tu [Therapeutic Use]; Metabolic Diseases/th [Therapy]; Neuroprotective Agents/tu [Therapeutic Use]
Creator
An entity primarily responsible for making the resource
Pearl PL; Bennett HD; Khademian Z
Description
An account of the resource
Seizures represent an important clinical manifestation of inborn errors of metabolism. The presence of myoclonic seizures and very early onset are clues to a metabolic disorder. Specific correlations between age of seizure onset and electroencephalogram patterns with inborn errors of metabolism are discussed. The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate metabolic diagnostic and therapeutic strategies in the setting of certain epilepsies. Specific laboratory, imaging, and treatment considerations are included to present updated material in a field that continues to expand rapidly.
2005
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1007/s11910-005-0010-7" target="_blank" rel="noreferrer">10.1007/s11910-005-0010-7</a>
Rights
Information about rights held in and over the resource
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
The nature or genre of the resource
Journal Article
2005
Anticonvulsants/tu [Therapeutic Use]
Backlog
Bennett HD
Current Neurology And Neuroscience Reports
Humans
Journal Article
Khademian Z
KT Synthesis
Metabolic Diseases/di [Diagnosis]
Metabolic Diseases/me [Metabolism]
Metabolic Diseases/th [Therapy]
Neuroprotective Agents/tu [Therapeutic Use]
Pearl PL
Seizures/di [Diagnosis]
Seizures/me [Metabolism]
Seizures/th [Therapy]