Details der Publikation - Metabolic Epilepsy

Metabolic Epilepsy

Abstract Inborn errors of metabolism have been considered as an infrequent cause of epilepsy. Improvement in diagnostics has improved the detection of a metabolic basis of recurrent seizures in neonates and children. The term 'metabolic epilepsy' is used to suggest inherited metabolic disorders with predominant epileptic manifestations as well as those where epilepsy is part of the overall neurological phenotype. Several of these disorders are treatable, and the physician should bear in mind the classical ages of presentation. As there are no specific clinical or electrographic features suggestive of metabolic epilepsies, an early suspicion is based on clinical and laboratory clues. Fortunately, with the advancement of gene sequencing technology, a diagnosis of these rare conditions is more straightforward and may not require invasive procedures such as biopsies, multiple metabolic stress-induced testing for abnormalities, and cerebrospinal fluid analysis. A gene panel may suffice in most cases and can be done from a blood sample. In many countries, many treatable metabolic disorders are now part of the neonatal screen. Early diagnosis and treatment of these disorders can result in the prevention of a full-scale metabolic crisis and improvement of neurological outcomes. Long-term neurological outcomes are variable and additional therapies may be required..

Medienart:	E-Artikel

Erscheinungsjahr:	2020
Erschienen:	2020

Enthalten in:	Zur Gesamtaufnahme - volume:88
Enthalten in:	Indian journal of pediatrics - 88(2020), 10 vom: 16. Okt., Seite 1025-1032

Sprache:	Englisch

Beteiligte Personen:	Reddy, Chaithanya [VerfasserIn] Saini, Arushi Gahlot [VerfasserIn]

Links:	Volltext [lizenzpflichtig]

Themen:	Epilepsy Inborn error of metabolism Metabolic epilepsy Neurometabolic Seizures

Anmerkungen:	© Dr. K C Chaudhuri Foundation 2020

doi:	10.1007/s12098-020-03510-w

funding:
Förderinstitution / Projekttitel:

PPN (Katalog-ID):	OLC2127697375

Internformat


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520			\|a Abstract Inborn errors of metabolism have been considered as an infrequent cause of epilepsy. Improvement in diagnostics has improved the detection of a metabolic basis of recurrent seizures in neonates and children. The term 'metabolic epilepsy' is used to suggest inherited metabolic disorders with predominant epileptic manifestations as well as those where epilepsy is part of the overall neurological phenotype. Several of these disorders are treatable, and the physician should bear in mind the classical ages of presentation. As there are no specific clinical or electrographic features suggestive of metabolic epilepsies, an early suspicion is based on clinical and laboratory clues. Fortunately, with the advancement of gene sequencing technology, a diagnosis of these rare conditions is more straightforward and may not require invasive procedures such as biopsies, multiple metabolic stress-induced testing for abnormalities, and cerebrospinal fluid analysis. A gene panel may suffice in most cases and can be done from a blood sample. In many countries, many treatable metabolic disorders are now part of the neonatal screen. Early diagnosis and treatment of these disorders can result in the prevention of a full-scale metabolic crisis and improvement of neurological outcomes. Long-term neurological outcomes are variable and additional therapies may be required.
650		4	\|a Metabolic epilepsy
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Metabolic Epilepsy

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