Treatable inherited metabolic epilepsies.
Journal
Neurosciences (Riyadh, Saudi Arabia)
ISSN: 1319-6138
Titre abrégé: Neurosciences (Riyadh)
Pays: Saudi Arabia
ID NLM: 101252453
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
entrez:
7
7
2021
pubmed:
8
7
2021
medline:
15
12
2021
Statut:
ppublish
Résumé
Inherited metabolic diseases usually present a complex clinical picture in which seizures are one of various neurological manifestations, which include developmental delays/regression, acute encephalopathy, neuropsychiatric manifestations, and movement disorders. However, a seizure can be the prominent feature in inherited metabolic disease. The specific diagnosis of an underlying inherited metabolic disorder in epileptic patients may help design specific treatments that can improve the seizures and stop neurodegeneration. In several inherited metabolic diseases such as vitamin-responsive epilepsies and other metabolic epilepsies, seizures are refractory to antiseizure medications but respond to specific treatments based on vitamin and cofactor supplementation or diet. This review discusses our current understanding of these inherited metabolic disorders associated with epilepsy, where early diagnosis and treatment initiation will significantly improve the outcome.
Identifiants
pubmed: 34230076
pii: 26/3/229
doi: 10.17712/nsj.2021.3.20210077
pmc: PMC8926125
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
229-235Informations de copyright
Copyright: © Neurosciences.
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