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Frontiers in Pediatrics|March 16, 2023
Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation?Cristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
European Journal of Medical Genetics|November 5, 2022
Hydranencephaly in CENPJ-related Seckel syndromeClaudia Cuccurullo, Giuseppina Miele, Gianluca Piccolo, et al.
Epilepsia Open|July 3, 2026
Expanding the electroclinical spectrum of TANC2-related disorders: Lennox-Gastaut syndrome and related developmental epileptic phenotypesLorenzo Perilli, Carlotta Stipa, Gianmichele Villano, et al.
Neurogenetics|September 17, 2020
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in femalesMarcello Scala, Evelien Zonneveld-Huijssoon, Marianna Brienza, et al.
Frontiers in Neurology|August 28, 2023
Pediatric hypnic headache: a systematic reviewAlessandro Ferretti, Margherita Velardi, Claudia Fanfoni, et al.
Epilepsy & Behavior : E&B|September 13, 2020
Cognitive, adaptive, and behavioral effects of adjunctive rufinamide in Lennox-Gastaut syndrome: A prospective observational clinical studyFrancesca Felicia Operto, Alberto Verrotti, Alfonso Marrelli, et al.
Plos One|December 21, 2017
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEPMonica Coll, Pasquale Striano, Carles Ferrer-Costa, et al.
Annals of Neurology|October 12, 2013
The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsyMaurizio De Fusco, Riccardo Vago, Pasquale Striano, et al.
Molecular Syndromology|October 27, 2016
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi SyndromeCaroline Lund, Pasquale Striano, Hanne Sørmo Sorte, et al.
Science Advances|July 8, 2026
Deep magma underpressure and connectivity drive large dike intrusionsCarolina Pagli, Alessandro La Rosa, Simone Cesca, et al.
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