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Author Details

Robertino Dilena
Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico
2008
42
15
PMIDPaper TitleJournal TitlePublished Year
38007340Corrigendum to "Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation" [Brain Dev. 38(1) (2016) 128-131].Brain Dev2024
36599696Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy.Neurology2023
37621236Ictal video-electroencephalogram of breath-holding attack.J Paediatr Child Health2023
37518907GABRB1-related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation.Epileptic Disord2023
37425262Can early-onset acquired demyelinating syndrome (ADS) hide pediatric Behcet's disease? A case report.Front Pediatr2023
37277843Early acute cerebellar ataxia after meningococcal B vaccine: a case report of a 7-month-old infant and a review of the literature.Ital J Pediatr2023
37468577A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.Eur J Hum Genet2023
36434256Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.Eur J Hum Genet2023
35911888Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy.Front Neurol2022
35756861A novel <i>RRM2B</i> mutation associated with mitochondrial DNA depletion syndrome.Mol Genet Metab Rep2022
35811433Ictal central sleep-related apnoea in Prader-Willi syndromeEpileptic Disord2022
34262519Early Findings in Neonatal Cases of <i>RYR1</i>-Related Congenital Myopathies.Front Neurol2021
33684728Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonates.Clin Neurophysiol2021
34941698Infant Botulism: Checklist for Timely Clinical Diagnosis and New Possible Risk Factors Originated from a Case Report and Literature Review.Toxins (Basel)2021
34730517Epilepsy features in ARID1B-related Coffin-Siris syndrome.Epileptic Disord2021
32341819Familial Sleep Disorders in Unknown Genetic Syndrome.J Pediatr Genet2020
33506622Anakinra usage in febrile infection related epilepsy syndrome: an international cohort.Ann Clin Transl Neurol2020
31642013Acute flaccid paralysis due to Echovirus 30 in an immunosuppressed transplant recipient.J Neurovirol2020
30611233Pseudotumour cerebri associated with mycoplasma pneumoniae infection and treatment with levofloxacin: a case report.BMC Pediatr2019
30954359Influence of etiology on treatment choices for neonatal seizures: A survey among pediatric neurologists.Brain Dev2019
30850329Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.Parkinsonism Relat Disord2019
31168503Therapeutic effect of Anakinra in the relapsing chronic phase of febrile infection-related epilepsy syndrome.Epilepsia Open2019
29295770A de novo C19orf12 heterozygous mutation in a patient with MPAN.Parkinsonism Relat Disord2018
30144370Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation.Am J Med Genet A2018
30112700Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.Neurotherapeutics2018
30591017Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye.BMC Neurol2018
27876397Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.Brain Dev2017
28379373Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.Brain2017
28835862Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome.Case Rep Pediatr2017
26212315Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.Brain Dev2016
26372816Locked-in-like fulminant infantile Guillain-Barré syndrome associated with herpes simplex virus 1 infection.Muscle Nerve2016
26607205Posterior reversible encephalopathy syndrome after kidney transplantation in pediatric recipients: Two cases.Pediatr Transplant2016
27133780Epilepsy surgery in a liver-transplanted girl with temporal lobe epilepsy and hippocampal sclerosis following PRES with status epilepticus.Eur J Paediatr Neurol2016
26865513STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.Neurology2016
25792293Paediatric anti-N-methyl-D-aspartate receptor encephalitis: The first Italian multicenter case series.Eur J Paediatr Neurol2015
23292760Congenital myasthenic syndrome due to choline acetyltransferase mutations in infants: clinical suspicion and comprehensive electrophysiological assessment are important for early diagnosis.J Child Neurol2014
30363915Midazolam Responsive Oculogyric Crisis, Oral Automatisms, Akinesia and Rigidity Induced by Sedation Withdrawal in a Child.Mov Disord Clin Pract2014
25566546Fetal acetylcholine receptor inactivation syndrome: A myopathy due to maternal antibodies.Neurol Neuroimmunol Neuroinflamm2014
24337409Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.J Neurol2014
21825031Spinal direct current stimulation modulates the activity of gracile nucleus and primary somatosensory cortex in anaesthetized rats.J Physiol2011
22093604Medulloblastoma presenting as dialysis disequilibrium syndrome.Hemodial Int2011
18785641Transcranial direct current stimulation in two patients with Tourette syndrome.Mov Disord2008
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Collaborators

Maurizio Viri
"Fatebenefratelli e Oftalmico" Hospital
Co-authored papers 4
Tiziana Granata
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 2
Ingo Helbig
Children's Hospital of Philadelphia
Co-authored papers 2
Susan Byrne
Royal College of Surgeons in Ireland
Co-authored papers 1
Franco Stanzial
Genetic Counseling Service - Regional Hospital of Bolzano
Co-authored papers 1
Maria Cristina Aspromonte
University of Padova
Co-authored papers 1
Krista Eschbach
Children's Hospital Colorado, University of Colorado Anschutz Medical Campus
Co-authored papers 1
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
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
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
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
Maria Roberta Cilio
Co-authored papers 1
Asif Doja
University of Ottawa
Co-authored papers 1
Eric T Payne
Alberta Children's Hospital
Co-authored papers 1
Martin Zenker
Co-authored papers 1
Marios Kaliakatsos
Great Ormond Street Hospital for Children
Co-authored papers 1
Stefano D'Arrigo
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 1
Filippo Martinelli Boneschi
Co-authored papers 1
Laila Selim
Cairo University
Co-authored papers 1
Tobias Loddenkemper
Harvard Medical School
Co-authored papers 1
Ki Hyeong Lee
Co-authored papers 1
Srishti Nangia
New York-Presbyterian Hospital
Co-authored papers 1
Thomas Dorn
Universitat Rostock
Co-authored papers 1
Elizabeth M Wells
Children's National Hospital
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