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List of works by Stefano Sartori

14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?

scientific article published on 06 July 2013

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

scientific article published on 24 March 2020

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

scientific article published in February 2009

Alexithymia in juvenile primary headache sufferers: a pilot study.

scientific article

Analysis of the bispectral index during natural sleep in children

scientific article published in September 2005

Angelman syndrome due to a novel splicing mutation of the UBE3A gene

scientific article published on 16 May 2008

Anti-NMDAR encephalitis preceded by non-herpetic central nervous system infection: Systematic literature review and first case of tick-borne encephalitis triggering anti-NMDAR encephalitis

scientific article published on 19 March 2019

Antibiotic treatment for pyelonephritis in children: multicentre randomised controlled non-inferiority trial

scientific article

Baby Jerking: A Teaching Video-Recorded Case of Febrile Myoclonus

scientific article published on 14 July 2015

Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings

scientific article published in August 2008

Bilateral perisylvian polymicrogyria with cerebellar dysplasia and ectopic neurohypophysis

scientific article published on 27 January 2011

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review

scientific article published on 03 July 2018

Cardiac arrest in a toddler treated with propranolol for infantile Hemangioma: a case report

scientific article published on 17 November 2017

Cerebellar gray matter lesions are common in pediatric multiple sclerosis at clinical onset

scientific article published on 05 March 2020

Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex

scientific article published on 16 July 2019

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

scientific article published on 02 August 2019

Chiari 2 without spinal dysraphism: does it blow a hole in the pathogenesis?

scientific article published on 28 February 2012

Children with convulsive epileptic seizures presenting to padua pediatric emergency department: the first retrospective population-based descriptive study in an Italian Health District

scientific article published on 09 July 2014

Dandy-Walker malformation masking the molar tooth sign: an illustrative case with magnetic resonance imaging follow-up

scientific article published on 7 September 2010

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.

scientific article

Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.

scientific article

Diffusion-weighted imaging findings in hemolytic uremic syndrome with central nervous system involvement

scientific article

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

Early cortical cytotoxic edema in meningococcal meningitis

scientific article published in August 2009

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

scientific article published on 12 April 2016

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

scientific article published on 7 November 2012

Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies

scientific article published in December 2012

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01)

scientific article published on 15 June 2016

Familial Ohtahara syndrome due to a novel ARX gene mutation

scientific article published on 01 December 2010

First Attack and Clinical Presentation of Hemiplegic Migraine in Pediatric Age: A Multicenter Retrospective Study and Literature Review

scientific article published on 15 October 2019

First-ever convulsive seizures in children presenting to the emergency department: risk factors for seizure recurrence and diagnosis of epilepsy

scientific article published on 07 September 2018

Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy

scientific article published on 07 January 2015

Genetic and imaging features of cerebellar abnormalities in tuberous sclerosis complex: more insights into their pathogenesis

scientific article published on 01 July 2018

Germinoma with synchronous involvement of midline and off-midline structures associated with progressive hemiparesis and hemiatrophy in a young adult.

scientific article

Headache attributed to aeroplane travel: the first multicentric survey in a paediatric population affected by primary headaches

scientific article published on 14 November 2018

Headache in children with Chiari I malformation

scientific article published on 25 April 2014

Herpes simplex virus-induced anti-N-methyl-D-aspartate receptor encephalitis: a systematic literature review with analysis of 43 cases

scientific article

Identification of four novel PCDH19 Mutations and prediction of their functional impact

scientific article

Immunotherapeutics in Pediatric Autoimmune Central Nervous System Disease: Agents and Mechanisms

scientific article published on 16 August 2017

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene

scientific article published on 18 September 2007

Intraparenchymal ventricular diverticula in chronic obstructive hydrocephalus: prevalence, imaging features and evolution

scientific article published on 23 August 2015

Intrathecal synthesis of oligoclonal bands in rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome: new evidence supporting immunological pathogenesis

scientific article published on 04 January 2013

Intravenous immunoglobulin in paediatric neurology: safety, adherence to guidelines, and long-term outcome

scientific article published on 31 May 2016

LGI1 and CASPR2 autoimmunity in children: Systematic literature review and report of a young girl with Morvan syndrome

scientific article published on 18 July 2019

Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation

scientific article published on 10 May 2019

Long-term neurocognitive outcome and quality of life in pediatric acute disseminated encephalomyelitis

scientific article published on 12 December 2013

Long-term plasma exchange in pediatric CIDP.

scientific article

Longitudinal electroencephalographic (EEG) findings in pediatric anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis: the Padua experience

scientific article published on 05 January 2014

Management of antibody-mediated autoimmune encephalitis in adults and children: literature review and consensus-based practical recommendations

scientific article published on 03 June 2019

Management of status epilepticus in adults. Position paper of the Italian League against Epilepsy

scientific article published on 22 November 2019

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

scientific article published on 26 May 2019

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

scientific article published on 2 February 2013

Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association

scientific article published on 27 February 2016

Multimodal neuroimaging in a child with sporadic hemiplegic migraine: A contribution to understanding pathogenesis ⬇️

scientific article published on December 20, 2010

Mycophenolate mofetil in paediatric autoimmune or immune-mediated diseases of the central nervous system: clinical experience and recommendations

scientific article published on 17 September 2018

Mycophenolate mofetil, azathioprine and methotrexate usage in paediatric anti-NMDAR encephalitis: A systematic literature review

article

N-methyl-D-aspartate receptor encephalitis: laboratory diagnostics and comparative clinical features in adults and children.

scientific article published on 29 January 2018

Neonatal Cortical Auditory Evoked Potentials Are Affected by Clinical Conditions Occurring in Early Prematurity

scientific article published on 25 April 2015

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

scientific article published on 23 January 2018

Neuroimaging Changes in Menkes Disease, Part 1.

scientific article

Neuroimaging Changes in Menkes Disease, Part 2.

scientific article

Neuropsychological And Psychopathological Profile Of Anti-Nmdar Encephalitis: A Possible Pathophysiological Model For Pediatric Neuropsychiatric Disorders

scientific article published on 01 November 2019

Nonorganic (psychogenic) visual loss in children: a retrospective series

scientific article published on 01 March 2010

Norovirus gastroenteritis and seizures: an atypical case with neuroradiological abnormalities

scientific article published in August 2011

Osmophobia as an early marker of migraine: a follow-up study in juvenile patients

scientific article published on 9 March 2012

Pacemaker in complicated and refractory breath-holding spells: when to think about it?

scientific article published on 12 March 2014

Paediatric anti-N-methyl-D-aspartate receptor encephalitis: The first Italian multicenter case series

scientific article published on 3 March 2015

Paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis. First report from the Italian Registry of Pediatric Thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili).

scientific article published on 12 March 2015

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life

scientific article published on 11 April 2011

Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients

scientific article published on 24 December 2019

Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype

scientific article published on 17 September 2019

Plasma exchange in pediatric anti-NMDAR encephalitis: A systematic review.

scientific article

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage? ⬇️

scientific article published on June 29, 2011

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

scientific article

Pre- and postprandial electroencephalography in glucose transporter type 1 deficiency syndrome: an illustrative case to discuss the concept of carbohydrate responsiveness.

scientific article published on January 2011

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders

scientific article published on 27 November 2018

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

scientific article published on 25 November 2017

Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis

scientific article published on 07 June 2019

Rhinencephalon changes in tuberous sclerosis complex

scientific article published on 17 June 2018

Secondary parenchymal and vascular changes after middle cerebral artery stroke in children.

scientific article published on 3 August 2013

Serum and CSF neurofilament light chain levels in antibody-mediated encephalitis

scientific article published on 03 April 2019

Spinal cord infarction due to fibrocartilaginous embolization: the role of diffusion weighted imaging and short-tau inversion recovery sequences

scientific article published on 18 March 2010

Subgroup comparison according to clinical phenotype and serostatus in autoimmune encephalitis: a multicenter retrospective study

scientific article published on 14 January 2020

Survey on treatments for primary headaches in 13 specialized juvenile Headache Centers: The first multicenter Italian study.

scientific article published on 31 December 2016

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

scientific article

The new definition and classification of status epilepticus: What are the implications for children?

scientific article published in November 2016

The pharmacological treatment of migraine in children and adolescents: an overview ⬇️

scientific article published on September 1, 2012

Treatment of convulsive status epilepticus in childhood: recommendations of the Italian League Against Epilepsy.

scientific article published on October 2013

Tuberous sclerosis-associated neuropsychiatric disorders: a paediatric cohort study

scientific article published on 09 October 2018

Unilateral hypoglossal nerve palsy due to neurovascular conflict in a child.

scientific article published on 25 September 2008

Varicella and stroke in children: good outcome without steroids

scientific article published on 15 December 2010

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