Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia

A young boy with multifocal epilepsy with infantile spasms and hypsarrhythmia with minimal organic lesions of brain structures underwent DNA diagnosis using whole‐exome sequencing. A heterozygous amino‐acid substitution p.L519R in a PHACTR1 gene was identified. PHACTR1 belongs to a protein family of...

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Detalles Bibliográficos
Autores principales: Marakhonov, Andrey V., Přechová, Magdalena, Konovalov, Fedor A., Filatova, Alexandra Yu., Zamkova, Maria A., Kanivets, Ilya V., Solonichenko, Vladimir G., Semenova, Natalia A., Zinchenko, Rena A., Treisman, Richard, Skoblov, Mikhail Yu.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629116/
https://www.ncbi.nlm.nih.gov/pubmed/33463715
http://dx.doi.org/10.1111/cge.13926

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