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Author Details

Tiziana Granata
Fondazione IRCCS Istituto Neurologico Carlo Besta
1992
175
44
PMIDPaper TitleJournal TitlePublished Year
36938796A registry for Dravet syndrome: The Italian experience.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
36944981GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders.Orphanet J Rare Dis2023
37142469GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.Parkinsonism Relat Disord2023
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
36719163Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.Epilepsia Open2023
36599696Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy.Neurology2023
34837146Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.Neurogenetics2022
35770094Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes.Front Pharmacol2022
36046422Severe Epilepsy and Movement Disorder May Be Early Symptoms of <i>TMEM106B</i>-Related Hypomyelinating Leukodystrophy.Neurol Genet2022
35879055Epileptic phenotypes in autoimmune encephalitis: from acute symptomatic seizures to autoimmune-associated epilepsy.J Neurol Neurosurg Psychiatry2022
33867302Inflammation in pediatric epilepsies: Update on clinical features and treatment options.Epilepsy Behav2022
35314505Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants.Neurology2022
34731330Myoclonic 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
33485697Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis.Brain Dev2021
33895390Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol.Seizure2021
33756404Cortico-muscular and cortico-cortical coherence changes resulting from Perampanel treatment in patients with cortical myoclonus.Clin Neurophysiol2021
33831796Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.Seizure2021
34786481Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.Neurol Genet2021
34837842Different circuitry dysfunction in drug-naive patients with juvenile myoclonic epilepsy and juvenile absence epilepsy.Epilepsy Behav2021
34093420Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut Syndrome.Front Neurol2021
34310985Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients?Prog Biophys Mol Biol2021
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
33277420Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.Neurology2021
33478845Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life.Brain Dev2021
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
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
32945537Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study.Epilepsia2020
32942014Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.Pharmacol Res2020
32913013Cardiac phenotype in <i>ATP1A3</i>-related syndromes: A multicenter cohort study.Neurology2020
32759092Did the COVID-19 pandemic silence the needs of people with epilepsy?Epileptic Disord2020
32441907Immunotherapy in GRIN2A-negative Landau-Kleffner Syndrome.Minerva Pediatr2020
30660924Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.Seizure2019
31904122Dravet syndrome: Early electroclinical findings and long-term outcome in adolescents and adults.Epilepsia2019
30032119The Movement disorder associated with NMDAR antibody-encephalitis is complex and characteristic: an expert video-rating study.J Neurol Neurosurg Psychiatry2019
31582194Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study.Eur J Paediatr Neurol2019
31175679Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis.Dev Med Child Neurol2019
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
31102535Epileptic phenotypes in children with early-onset mitochondrial diseases.Acta Neurol Scand2019
30986657HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.Epilepsy Res2019
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Eric T Payne
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Sarah A Helseth
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