Associated Papers
Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy.
Willième K et al.
Clinical Genetics, 2025
Neuroendocrine Control of Synaptic Transmission by PHAC-1 in C. elegans.
Stratigi A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025
Genotype and phenotype correlation of PHACTR1-related neurological disorders.
Xu Z et al.
Journal of Medical Genetics, 2024
Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants.
Previtali R et al.
Frontiers in Neurology, 2023
Epileptic Encephalopathy with Variants in the PHACTR1 and AFF2 Genes: A Case Report.
Suarez-Mendez ML et al.
Cytogenetic and Genome Research, 2022
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.
Marakhonov AV et al.
Clinical Genetics, 2021
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