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
PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice.
Messerschmidt C et al.
Scientific Reports, 2021
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
Hamada N et al.
Brain : a Journal of Neurology, 2018
Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.
Salloum R et al.
Acta Neuropathologica Communications, 2017
29084603 (PubMed )
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