Associated Papers
Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.
Aristidou C et al.
Genes, 2025
Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.
Martín ME et al.
Seizure, 2025
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
Marques I et al.
Molecular Genetics & Genomic Medicine, 2015
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