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Author Details

Elena Freri
Fondazione IRCCS Istituto Neurologico Carlo Besta
2003
91
26
PMIDPaper TitleJournal TitlePublished Year
37752373The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion.J Endocrinol Invest2024
36719163Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.Epilepsia Open2023
37746765A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.Epilepsia2023
37542971Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.Pediatr Neurol2023
37457006Case report: <i>SLC6A1</i> mutations presenting with isolated absence seizures: description of 2 novel cases.Front Neurosci2023
37000415Long-term effectiveness of add-on perampanel in patients with Lennox-Gastaut syndrome: A multicenter retrospective study.Epilepsia2023
37429835CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.Cereb Cortex2023
34085948Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.J Med Genet2022
35770094Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.Front Pharmacol2022
35769015Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.Brain2022
35879055Epileptic phenotypes in autoimmune encephalitis: from acute symptomatic seizures to autoimmune-associated epilepsy.J Neurol Neurosurg Psychiatry2022
35184210Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.J Neurol2022
34731330Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.Neurogenetics2022
34837146Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.Neurogenetics2022
32619473Psychiatric autoimmune conditions in children and adolescents: Is catatonia a severity marker?Prog Neuropsychopharmacol Biol Psychiatry2021
33854421International Consensus Based Review and Recommendations for Minimum Reporting Standards in Research on Transcutaneous Vagus Nerve Stimulation (Version 2020).Front Hum Neurosci2021
33895390Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol.Seizure2021
33773408Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.J Neurol Sci2021
33831796Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.Seizure2021
33989939CDKL5 deficiency disorder in males: Five new variants and review of the literature.Eur J Paediatr Neurol2021
34259158Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.Epileptic Disord2021
33111300Letter to the Editor Regarding the Article "Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy".Neuropediatrics2021
32301727Early Parkinsonism in a Senegalese girl with Lafora disease.Epileptic Disord2020
33506622Anakinra usage in febrile infection related epilepsy syndrome: an international cohort.Ann Clin Transl Neurol2020
31876960Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation.Epilepsia2020
31858178FDG-PET assessment and metabolic patterns in Lafora disease.Eur J Nucl Med Mol Imaging2020
31972370A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.Eur J Med Genet2020
33220649Epilepsy and NREM-parasomnia caused by novel hemizygous ARHGEF9 mutation.Sleep Med2020
33063863Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.Epilepsia2020
33007625SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus.Seizure2020
32942014Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.Pharmacol Res2020
30660924Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.Seizure2019
31175679Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis.Dev Med Child Neurol2019
31227012Treatment with metformin in twelve patients with Lafora disease.Orphanet J Rare Dis2019
31446282An Italian multicentre study of perampanel in progressive myoclonus epilepsies.Epilepsy Res2019
31419648Early clinical and EEG findings associated with the outcome in childhood absence epilepsy.Epilepsy Behav2019
30986657HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.Epilepsy Res2019
30895386Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.J Neurol2019
28659239A causality algorithm to guide diagnosis and treatment of catatonia due to autoimmune conditions in children and adolescents.Schizophr Res2018
30105822The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.Am J Med Genet B Neuropsychiatr Genet2018
29940349Transcutaneous vagal nerve stimulatio (t-VNS): An adjunctive treatment option for refractory epilepsy.Seizure2018
30127718A Loss-of-Function <i>HCN4</i> Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability.Front Mol Neurosci2018
29936235A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.Neurobiol Dis2018
30109707Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.Acta Neurol Scand2018
30746416Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.Mov Disord Clin Pract2018
30351409HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.Brain2018
30268930Network characteristics in benign epilepsy with centro-temporal spikes patients indicating defective connectivity during spindle sleep: A partial directed coherence study of EEG signals.Clin Neurophysiol2018
30451291Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.Epilepsia2018
29525723Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157].Epilepsy Behav2018
29383681Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP<sub>2</sub>-Dependent K<sup>+</sup> Channel Gating.Mol Neurobiol2018
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Collaborators

Tiziana Granata
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 66
Nardo Nardocci
Co-authored papers 11
Stefano D'Arrigo
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 6
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 4
Maurizio Viri
"Fatebenefratelli e Oftalmico" Hospital
Co-authored papers 2
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 2
Sookyong Koh
Children's Hospital Medical Center, University of Nebraska
Co-authored papers 2
Jessica L Carpenter
University of Maryland School of Medicine
Co-authored papers 1
Coral M Stredny
Boston Children's Hospital, Harvard Medical School
Co-authored papers 1
Andreas Brunklaus
University of Glasgow
Co-authored papers 1
James J Riviello
Baylor College of Medicine
Co-authored papers 1
Nevedita Desai
Great Ormond Street Hospital
Co-authored papers 1
Yi-Chen Lai
Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine
Co-authored papers 1
Eyal Muscal
Baylor College of Medicine
Co-authored papers 1
Khalid Hundallah
Prince Sultan Military Medical City
Co-authored papers 1
Asif Doja
University of Ottawa
Co-authored papers 1
Eric T Payne
Alberta Children's Hospital
Co-authored papers 1
Giovanni Battista Ferrero
Co-authored papers 1
Marios Kaliakatsos
Great Ormond Street Hospital for Children
Co-authored papers 1
Heidi I L Jacobs
Maastricht University
Co-authored papers 1
Kevin E Chapman
Phoenix Children's Hospital and University of Arizona School of Medicine Phoenix
Co-authored papers 1
Douglas R Nordli
University of Chicago
Co-authored papers 1
Gerald A Grant
Brigham and Women's Hospital, Harvard Medical School
Co-authored papers 1
Ki Hyeong Lee
Co-authored papers 1
William B Dobyns
University of Minnesota
Co-authored papers 1
George I Jallo
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Srishti Nangia
New York-Presbyterian Hospital
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Elizabeth M Wells
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Release 1.2