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POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

Background: The clinical spectrum associated with POLG1 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 epilepsy related to POLG1...

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Dades bibliogràfiques
Publicat a:Brain Sci
Autors principals: Specchio, Nicola, Pietrafusa, Nicola, Calabrese, Costanza, Trivisano, Marina, Pepi, Chiara, de Palma, Luca, Ferretti, Alessandro, Curatolo, Paolo, Vigevano, Federico
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7690674/
https://ncbi.nlm.nih.gov/pubmed/33113942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci10110768
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