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Intractable Epilepsy in Maternally Inherited Leigh Syndrome (MILS) Due to the Sporadic Variant m.8993T>G in MT-ATP6: A Case Report

Epilepsy is a common phenotypic feature of Leigh syndrome. However, data about the characteristics, treatments, and outcomes of epilepsy in maternally inherited Leigh syndrome (MILS) are limited. A four-year-old boy with sporadic MILS developed epilepsy at the age of five months. His condition was d...

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Detalles Bibliográficos
Autor principal: Finsterer, Josef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8971112/
https://www.ncbi.nlm.nih.gov/pubmed/35371783
http://dx.doi.org/10.7759/cureus.22716