Erica Pironti

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12

The impact of the ketogenic diet on arterial morphology and endothelial function in children and young adults with epilepsy: A case–control study

Giangennaro Coppola, Francesco Natale, Annarita Torino et al. · Seizure · 2013 · 61 citations

Medicine, Nutritional Sciences, Pediatrics +9

Lack of pathogenic mutations in six patients with MMPSI

Maria Rosaria De Filippo, Francesca Rizzo, Giovanna Marchese et al. · Epilepsy Research · 2013 · 42 citations

Medicine, Molecular Genetics, Medical Genetics +4

A novel <i>SLC1A4</i> homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study

Erica Pironti, Vincenzo Salpietro, Francesca Cucinotta et al. · Journal of Neurogenetics · 2018 · 17 citations

Life Sciences, Genetics, Neurology +17

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Elisa Calì, Sheng‐Jia Lin, Clarissa Rocca et al. · Genetics in Medicine · 2022 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17