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Acta Bio-Medica : Atenei Parmensis|April 20, 2022
Therapeutic aspects of Sydenham's Chorea: an updateGreta Depietri, Niccolo Carli, Attilio Sica, et al.
Epilepsia|April 26, 2021
Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel functionMarcello Scala, Stephanie Efthymiou, Tipu Sultan, et al.
Biochemical and Biophysical Research Communications|June 29, 2023
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disordersAntonella Riva, Michele Iacomino, Chiara Piccardo, et al.
Expert Review of Neurotherapeutics|May 17, 2021
Diagnostic and therapeutic approach to drug-resistant juvenile myoclonic epilepsyMichele Ascoli, Giovanni Mastroianni, Sara Gasparini, et al.
Seizure|September 16, 2011
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathiesFrancesco Nicita, Paola De Liso, Federica Rachele Danti, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disordersPaola Borgia, Simona Baldassari, Nicoletta Pedemonte, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 1, 2018
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma ElasticumMarta Bertamino, Mariasavina Severino, Alice Grossi, et al.
Brain Pathology (Zurich, Switzerland)|September 12, 2009
22-year-old girl with status epilepticus and progressive neurological symptomsPasquale Striano, Cameron A Ackerley, Mariarosaria Cervasio, et al.
Archives of Neurology|July 16, 2008
A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsyPasquale Striano, Arturo de Falco, Erica Diani, et al.
Epilepsia Open|July 26, 2023
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature reviewAlice Dainelli, Michele Iacomino, Sara Rossato, et al.
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