Article
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.
Clinical genetics - 1 May 2021
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
Abstract excerpt
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 G-actin binding protein phosphatase 1 (PP1) cofactors and was not previously associated with a human disease. The...
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