Livia Pisciotta
University of Genoa(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Ion Transport and Channel Regulation, Genomics and Rare Diseases, Mitochondrial Function and Pathology
Most-Cited Works
- → Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome(2018)86 cited
- → Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients(2017)47 cited
- → Cardiac phenotype in ATP1A3 -related syndromes(2020)43 cited
- → CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations(2018)31 cited
- → Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?(2016)29 cited
- → Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs(2021)23 cited
- → Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients(2021)23 cited
- → An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia(2021)21 cited
- → Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations(2020)21 cited
- → CASK related disorder: Epilepsy and developmental outcome(2021)21 cited