POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

Background: The clinical spectrum associated with <i>POLG1</i> gene mutations ranges from non-syndromic epilepsy or mild isolated neurological signs to neurodegenerative disorders. Our aim was to review diagnostic findings, therapeutic approaches and outcomes of reported cases of epileps...

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Bibliographic Details
Main Authors: Nicola Specchio, Nicola Pietrafusa, Costanza Calabrese, Marina Trivisano, Chiara Pepi, Luca de Palma, Alessandro Ferretti, Paolo Curatolo, Federico Vigevano
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Brain Sciences
Subjects:
mitochondrial diseases
DNA polymerase gamma
<i>POLG1</i>
epilepsy
genetic findings
neurophysiologic findings
Online Access:https://www.mdpi.com/2076-3425/10/11/768

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https://www.mdpi.com/2076-3425/10/11/768

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