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14.12.2019 | Review Article

Epilepsy and brain channelopathies from infancy to adulthood

verfasst von: Emanuele Bartolini, Roberto Campostrini, Lorenzo Kiferle, Silvia Pradella, Eleonora Rosati, Krishna Chinthapalli, Pasquale Palumbo

Erschienen in: Neurological Sciences | Ausgabe 4/2020

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Abstract

Genetic brain channelopathies result from inherited or de novo mutations of genes encoding ion channel subunits within the central nervous system. Most neurological channelopathies arise in childhood with paroxysmal or episodic symptoms, likely because of a transient impairment of homeostatic mechanisms regulating membrane excitability, and the prototypical expression of this impairment is epilepsy. Migraine, episodic ataxia and alternating hemiplegia can also occur, as well as chronic phenotypes, such as spinocerebellar ataxias, intellectual disability and autism spectrum disorder. Voltage-gated and ligand-gated channels may be involved. In most cases, a single gene may be associated with a phenotypical spectrum that shows variable expressivity. Different clinical features may arise at different ages and the adult phenotype may be remarkably modified from the syndrome onset in childhood or adolescence. Recognizing the prominent phenotypical traits of brain channelopathies is essential to perform appropriate diagnostic investigations and to provide the better care not only in the paediatric setting but also for adult patients and their caregivers. Herein, we provide an overview of genetic brain channelopathies associated with epilepsy, highlight the different molecular mechanisms and describe the different clinical characteristics which may prompt the clinician to suspect specific syndromes and to possibly establish tailored treatments.

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Titel: Epilepsy and brain channelopathies from infancy to adulthood
verfasst von: Emanuele Bartolini
Roberto Campostrini
Lorenzo Kiferle
Silvia Pradella
Eleonora Rosati
Krishna Chinthapalli
Pasquale Palumbo
Publikationsdatum: 14.12.2019
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 4/2020
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-04190-x

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