Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy

INTRODUCTION: Coenzyme Q10 deficiency can be due to mutations in Coenzyme Q10-biosynthesis genes (primary) or genes unrelated to biosynthesis (secondary). Primary Coenzyme Q10 deficiency-4 (COQ10D4), also known as autosomal recessive spinocerebellar ataxia-9 (SCAR9), is an autosomal recessive disord...

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Detalles Bibliográficos
Autores principales: Ashrafi, Mahmoud Reza, Haghighi, Roya, Badv, Reza Shervin, Ghabeli, Homa, Tavasoli, Ali Reza, Pourbakhtyaran, Elham, Rezaei, Zahra, Mahdieh, Nejat, Mohammadi, Pouria, Heidari, Morteza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8914440/
https://www.ncbi.nlm.nih.gov/pubmed/35275351
http://dx.doi.org/10.1007/s12031-022-01993-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8914440/
https://www.ncbi.nlm.nih.gov/pubmed/35275351
http://dx.doi.org/10.1007/s12031-022-01993-0

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