Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Dulac, O; Plecko, B; Gataullina, S; Wolf, NI.
Occasional seizures, epilepsy, and inborn errors of metabolism.
Lancet Neurol. 2014; 13(7): 727-739.
Doi: 10.1016/S1474-4422(14)70110-3
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- Co-Autor*innen der Med Uni Graz
- Plecko Barbara
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- Abstract:
- Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement disorders, and cognitive disturbances. However, the occurrence of epilepsy associated with inborn errors of metabolism represents a major challenge that needs to be identified quickly; for some cases, specific treatments are available, metabolic decompensation might be avoided, and accurate counselling can be given about recurrence risk. Some clinical presentations are more likely than others to point to an inborn error of metabolism as the cause of seizures. Knowledge of important findings at examination, and appropriate biochemical investigation of children with seizures of uncertain cause, can aid the diagnosis of an inborn error of metabolism and ascertain whether or not the seizures are amenable to specific metabolic treatment. Copyright © 2014 Elsevier Ltd. All rights reserved.
- Find related publications in this database (using NLM MeSH Indexing)
- Animals -
- Electroencephalography - methods
- Epilepsy - diagnosis
- Epilepsy - epidemiology
- Epilepsy - genetics
- Humans -
- Metabolism, Inborn Errors - diagnosis
- Metabolism, Inborn Errors - epidemiology
- Metabolism, Inborn Errors - genetics
- Seizures - diagnosis
- Seizures - epidemiology
- Seizures - genetics