Case report: A novel PPP3CA truncating mutation within the regulatory domain causes severe developmental and epileptic encephalopathy in a Chinese patient

INTRODUCTION: Developmental and epileptic encephalopathy 91 (DEE91; OMIM#617711) is a severe neurodevelopmental disorder caused by heterozygous PPP3CA variants. To the best of our knowledge, only a few DEE91 cases have been reported. RESULTS: This study reports a boy who experienced recurrent afebri...

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Detalles Bibliográficos
Autores principales: Li, Jieling, Cao, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491239/
https://www.ncbi.nlm.nih.gov/pubmed/36158964
http://dx.doi.org/10.3389/fneur.2022.889167

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491239/
https://www.ncbi.nlm.nih.gov/pubmed/36158964
http://dx.doi.org/10.3389/fneur.2022.889167

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