Literature DB >> 16343871

[Neonatal epilepsy and inborn errors of metabolism].

N Bahi-Buisson1, K Mention, P L Léger, V Valayanopoulos, R Nabbout, A Kaminska, P Plouin, O Dulac, P de Lonlay, I Desguerre.   

Abstract

Metabolic disorders constitute an important cause of neurologic disease, including neonatal epilepsy. Epilepsy rarely dominates the clinical presentation, which is more frequently associated with other neurologic symptoms, such as hypotonia and/or vigilance disturbances. In most cases, epilepsy secondary to inherited metabolic disorders presents with polymorphic clinical and electrographic features that are difficult to classify into precise epileptic syndromes. However, specific types of seizures, such as myoclonic seizures or distinctive electroencephalographic patterns, such as suppression burst patterns, epileptic syndrome or early myoclonic encephalopathy, may suggest a specific metabolic disease. The aim of this article is to help clinicians in reviewing potential metabolic diagnoses and approaching metabolic evaluations.

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Year:  2005        PMID: 16343871     DOI: 10.1016/j.arcped.2005.10.024

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  2 in total

Review 1.  Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes.

Authors:  Su-Kyeong Hwang; Soonhak Kwon
Journal:  Korean J Pediatr       Date:  2015-11-22

Review 2.  Epilepsy and inborn errors of metabolism in children.

Authors:  N I Wolf; A García-Cazorla; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2009-07-31       Impact factor: 4.982

  2 in total

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