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Metabolic Brain Disease

Erschienen in:

23.10.2020 | Review Article

Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management

verfasst von: Mario Mastrangelo

Erschienen in: Metabolic Brain Disease | Ausgabe 1/2021

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Abstract

Inborn errors of neurotransmitter metabolism are ultrarare disorders affecting neurotransmitter biosynthesis, breakdown or transport or their essential cofactors. Neurotransmitter dysfunctions could also result from the impairment of neuronal receptors, intracellular signaling, vesicle release or other synaptic abnormalities. Epilepsy is the main clinical hallmark in some of these diseases (e.g. disorders of GABA metabolism, glycine encephalopathy) while it is infrequent in others (e.g. all the disorders of monoamine metabolism in exception for dihydropteridine reductase deficiency). This review analyzes the epileptogenic mechanisms, the epilepsy phenotypes and the principle for the clinical management of epilepsy in primary and secondary inherited disorders of neurotransmitter metabolism (disorders of GABA, serine and glycine metabolism, disorders of neurotransmitter receptors and secondary neurotransmitter diseases).

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Titel: Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management
verfasst von: Mario Mastrangelo
Publikationsdatum: 23.10.2020
Verlag: Springer US
Erschienen in: Metabolic Brain Disease / Ausgabe 1/2021
Print ISSN: 0885-7490
Elektronische ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-020-00635-x

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Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management

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