Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elisa Pasquetti"'
Autor:
Francesca Patanè, Elisa Pasquetti, Federica Sullo, Monica Tosto, Catia Romano, Stefania Salafia, Raffaele Falsaperla
Publikováno v:
Journal of Pediatric Neurology.
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by heterozygous, mostly de novo, mutations in SLC2A1 gene encoding the glucose transporter GLUT1, the most relevant energy transporter in the blood–brain barrier. GLUT1DS includes a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96a4ba2009cca5804ddef66890fd2d0a
https://doi.org/10.1055/s-0041-1728668
https://doi.org/10.1055/s-0041-1728668
Autor:
Manuela Lo Bianco, Raffaele Falsaperla, Elisa Pasquetti, Simona Domenica Marino, Francesca Patanè, Federica Sullo, Antonio Zanghì, Agata Polizzi, Andrea D. Praticò, Martino Ruggieri
Epilepsies due to SCN2A mutations can present with a broad range of phenotypes that are still not fully understood. Clinical characteristics of SNC2A-related epilepsy may vary from neonatal benign epilepsy to early-onset epileptic encephalopathy, inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1cd0fa41bb3ab7ed3c0fe1814ccc843
http://hdl.handle.net/20.500.11769/505822
http://hdl.handle.net/20.500.11769/505822
Autor:
Francesca Patanè, Laura Sciuto, Federica Sullo, Raffaele Falsaperla, Elisa Pasquetti, Elena R. Praticò, Maria Teresa Garozzo, Monica Tosto
Epileptic encephalopathy is a condition in which seizures, electroencephalographic epileptiform abnormalities lead to a progressive deterioration of brain functions causing a significant psychomotor delay. One of the typical features of this heteroge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93ef1dd2bc9f5fc9f4fd93df99b58e10
http://hdl.handle.net/20.500.11769/508416
http://hdl.handle.net/20.500.11769/508416
Autor:
Federica Sullo, Elisa Pasquetti, Francesca Patanè, Manuela Lo Bianco, Simona D. Marino, Agata Polizzi, Raffaele Falsaperla, Martino Ruggieri, Antonio Zanghì, Andrea D. Praticò
Epilepsy is one of the most common neurological disorders, with a lifetime incidence of 1 in 26. Approximately two-thirds of epilepsy has a substantial genetic component in its etiology. As a result, simultaneous screening for mutations in multiple g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e100ceeb319b80b5e272aaf286eff9e0
http://hdl.handle.net/20.500.11769/508424
http://hdl.handle.net/20.500.11769/508424