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Human Molecular Genetics|May 16, 2015
Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathwayBeatriz Garcia-Diaz, Emanuele Barca, Andrea Balreira, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|July 14, 2021
Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathyRoberta Solazzi, Barbara Castellotti, Laura Canafoglia, et al.
Neurosci|November 24, 2025
Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature ReviewFrancesca Ragona, Giuliana Messina, Stefania Magri, et al.
Orphanet Journal of Rare Diseases|January 28, 2012
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptomsEttore Salsano, Silvia Tabano, Silvia M Sirchia, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 23, 2011
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defectMaria Sofia Cotelli, Valentina Vielmi, Marco Rimoldi, et al.
Progress in Biophysics and Molecular Biology|July 26, 2021
Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients?Alessandro Porro, Gerardo Abbandonato, Valentina Veronesi, et al.
European Journal of Human Genetics : EJHG|March 31, 2016
ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular studyMassimiliano Filosto, Massimo Aureli, Barbara Castellotti, et al.
Epilepsia Open|August 31, 2024
Next-generation sequencing in pediatric-onset epilepsies: Analysis with target panels and personalized therapeutic approachBarbara Castellotti, Francesca Ragona, Elena Freri, et al.
Frontiers in Pharmacology|June 30, 2022
Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic PhenotypesIlaria Mosca, Ilaria Rivolta, Audrey Labalme, et al.
Frontiers in Cellular Neuroscience|February 10, 2025
Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genesIlaria Filareto, Ilaria Mosca, Elena Freri, et al.
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