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| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| High-Density EEG Source Localisation of averaged interictal epileptic Discharges validated by surgical Outcome | Scientific data |  | 2025 | 44 | 100 | ||
| Pearls & Oy-sters : Increased Visibility of Focal Cortical Dysplasia in Cerebral MRI During the First Year of Life | Neurology | | 2025 | 37 | 72 | ||
| Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy | European journal of paediatric neurology |  | 2025 | 29 | 1 | ||
| Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | npj genomic medicine | | 2024 | 13 | 11 | ||
| Paroxysmal events in glucose transporter type 1 deficiency syndrome : Early identification of their true nature is important | Developmental medicine & child neurology | | 2024 | 9 | 24 | ||
| SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasia | Brain and development. Case reports | | 2024 | 12 | 43 | ||
| Long-term memory consolidation of new words in children with self-limited epilepsy with centro-temporal spikes | Epilepsy & behavior | | 2024 | 141 | 165 | ||
| Diagnostic potential of IL6 and other blood-based inflammatory biomarkers in mild traumatic brain injury among children | Frontiers in neurology | | 2024 | 71 | 96 | ||
| Management of Pediatric Mild Traumatic Brain Injury Patients : S100b, Glial Fibrillary Acidic Protein, and Heart Fatty-Acid-Binding Protein Promising Biomarkers | Neurotrauma reports | | 2024 | 164 | 113 | ||
| Molecular and Phenotypic Characterization of the RORB-Related Disorder | Neurology | | 2024 | 10 | 0 | ||
| Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R | Cells | | 2023 | 110 | 45 | ||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | 2023 | 179 | 96 | ||
| Use of complementary and alternative medicine in the management of pediatric epilepsy at Geneva University Hospitals | 35th International Epilepsy Congress | 2023 | 23 | 0 | |||
| Letter on : 3D figure of epilepsy syndromes | Epilepsia open | | 2023 | 57 | 20 | ||
| Feasibility, tolerability and efficacy of the ketogenic diet in children with drug-resistant epilepsy in Vietnam | Epilepsia open | | 2023 | 49 | 74 | ||
| Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms | Frontiers in immunology | | 2022 | 302 | 143 | ||
| Updates on the diagnostic evaluation, genotype-phenotype correlation, and treatments of genetic epilepsies | Current opinion in pediatrics | | 2022 | 58 | 57 | ||
| High density electric source imaging in childhood-onset epilepsy due to focal cortical dysplasia | Clinical neurophysiology practice | | 2022 | 55 | 106 | ||
| A review of targeted therapies for monogenic epilepsy syndromes | Frontiers in neurology | | 2022 | 54 | 119 | ||
| Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency : a cohort study | Developmental medicine & child neurology | | 2022 | 88 | 0 | ||
| Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood | Neurology | | 2022 | 175 | 309 | ||
| Structural brain abnormalities in epilepsy with myoclonic atonic seizures | Epilepsy research | | 2021 | 99 | 158 | ||
| Ketogenic diet treatment in diffuse intrinsic pontine glioma in children: Retrospective analysis of feasibility, safety, and survival data | Cancer reports | | 2021 | 261 | 285 | ||
| ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder | Clinical genetics | | 2021 | 191 | 61 | ||
| The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy | Epilepsia | | 2021 | 86 | 170 | ||
| NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns | Genetics in Medicine | | 2021 | 298 | 0 | ||
| Status Epilepticus in Children | Journal of Clinical Neurophysiology | | 2020 | 192 | 0 | ||
| Localizing non-epileptiform abnormal brain function in children using high density EEG: Electric Source Imaging of focal slowing | Epilepsy Research | | 2020 | 377 | 0 | ||
| Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy | European Journal of Paediatric Neurology | | 2020 | 238 | 0 | ||
| Lessons learned from 40 novel PIGA patients and a review of the literature | Epilepsia | | 2020 | 198 | 0 | ||
| Modulation of epileptic networks by transient interictal epileptic activity: a dynamic approach to simultaneous EEG-fMRI | NeuroImage: Clinical | | 2020 | 360 | 366 | ||
| SCN8A heterozygous variants are associated with anoxic-epileptic seizures | American Journal of Medical Genetics. A | | 2020 | 274 | 1 | ||
| Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists | Developmental Medicine and Child Neurology | | 2019 | 381 | 0 | ||
| The spectrum of intermediate SCN8A-related epilepsy | Epilepsia | | 2019 | 290 | 0 | ||
| Clinical and genetic spectrum of SCN2A-associated episodic ataxia | European Journal of Paediatric Neurology | | 2019 | 325 | 0 | ||
| Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation | Neuropediatrics | | 2019 | 281 | 0 | ||
| Comment on: Ketogenic diet treatment in recurrent diffuse intrinsic pontine glioma in children: a safety and feasibility study | Pediatric Blood and Cancer | | 2019 | 263 | 0 | ||
| What to do in failed hemispherotomy? Our clinical series and review of the literature | Neurosurgical Review | | 2018 | 621 | 3 | ||
| Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report | Developmental Medicine and Child Neurology | | 2018 | 333 | 1 | ||
| Why the TimeToStop trial failed to recruit: a survey on antiepileptic drug withdrawal after paediatric epilepsy surgery | Epileptic Disorders | | 2018 | 359 | 0 | ||
| Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis | Genome Medicine | | 2018 | 359 | 191 | ||
| De novo variants in neurodevelopmental disorders with epilepsy | Nature Genetics | | 2018 | 315 | 0 | ||
| NBEA: Developmental disease gene with early generalized epilepsy phenotypes | Annals of Neurology | | 2018 | 361 | 0 | ||
| A triad of infantile spasms, nystagmus and a focal tonic seizure | Epileptic Disorders | | 2018 | 412 | 1 | ||
| Desaturation during cry in the neonatal period | Global Pediatric Health | | 2018 | 424 | 205 | ||
| Circulating neural antibodies in unselected children with new-onset seizures | European Journal of Paediatric Neurology | | 2018 | 299 | 0 | ||
| Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU | Human Genetics | | 2017 | 444 | 1 | ||
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | 2017 | 544 | 2 | ||
| The Immune System in Pediatric Seizures and Epilepsies | Pediatrics | | 2017 | 444 | 0 | ||
| An epidemic of dystonic reactions in central Africa | The Lancet Global Health | | 2017 | 417 | 288 | ||
| GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | Journal of Medical Genetics | | 2017 | 461 | 1 | ||
| Drug-Level Monitoring on Admission for Presurgical Epilepsy Evaluation | European Neurology |  | 2017 | 530 | 0 | ||
| Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies | Brain | | 2017 | 493 | 1 | ||
| Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy | Journal of Medical Genetics | | 2016 | 323 | 2 | ||
| Pediatric epilepsy surgery: could age be a predictor of outcomes? | Journal of Neurosurgery: Pediatrics | | 2016 | 555 | 0 | ||
| Epileptic networks are strongly connected with and without the effects of interictal discharges | Epilepsia | | 2016 | 698 | 1 | ||
| Diabetic Striatopathy in Childhood: A Case Report | Pediatrics | | 2016 | 636 | 1 | ||
| Yield of MRI, high-density electric source imaging (HD-ESI), SPECT and PET in epilepsy surgery candidates | Clinical neurophysiology | | 2016 | 726 | 1 | ||
| Combined VIth and VIIth nerve palsy: Consider idiopathic intracranial hypertension! | European journal of paediatric neurology | | 2016 | 614 | 0 | ||
| Riboflavin in cyclic vomiting syndrome: efficacy in three children | European journal of pediatrics | | 2016 | 532 | 0 | ||
| Successful treatment of neonatal atypical hemolytic uremic syndrome with C5 monoclonal antibody | Archives de pédiatrie | | 2016 | 705 | 0 | ||
| Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects | Molecular syndromology | | 2016 | 552 | 0 | ||
| Epileptic spasms in epilepsy with myoclonic-atonic seizures (Doose syndrome) | Epileptic Disorders | | 2016 | 628 | 0 | ||
| When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? | European journal of paediatric neurology | | 2015 | 562 | 0 | ||
| Vaccinations and Dravet Syndrome | Pediatric neurology briefs | | 2015 | 405 | 169 | ||
| A practical, simple, and useful method of categorizing interictal EEG features in children | Neurology | | 2015 | 504 | 0 | ||
| Clinical Variability of GLUT1DS | Pediatric neurology briefs | | 2015 | 432 | 373 | ||
| Editorial commentary on "Refractory absence seizures: An Italian multicenter retrospective study" by E. Franzoni et al | European journal of paediatric neurology | | 2015 | 417 | 0 | ||
| De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy | Nature genetics | | 2015 | 563 | 1 | ||
| A child with ictal vocalizations and generalized epilepsy | Epileptic disorders | | 2015 | 578 | 0 | ||
| Severe phenotypic spectrum of biallelic mutations in PRRT2 gene | Journal of neurology, neurosurgery and psychiatry | | 2015 | 529 | 0 | ||
| Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome | Epilepsia | | 2015 | 528 | 1 | ||
| Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia--anauxetic dysplasia spectrum disorder: a coincidental finding? | European journal of paediatric neurology | | 2015 | 672 | 0 | ||
| The immune system in pediatric seizures and epilepsies: current state of knowledge | | 2014 | 466 | 218 | |||
| Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report | Neuropediatrics | | 2014 | 582 | 1 | ||
| Autoimmunity and inflammation in status epilepticus: from concepts to therapies | Expert review of neurotherapeutics | | 2014 | 505 | 0 | ||
| Epilepsy: old syndromes, new genes | Current neurology and neuroscience reports | | 2014 | 522 | 0 | ||
| Towards the identification of a genetic basis for Landau-Kleffner syndrome | Epilepsia | | 2014 | 652 | 0 | ||
| Localization of the epileptogenic tuber with electric source imaging in patients with tuberous sclerosis | Epilepsy research | | 2014 | 712 | 0 | ||
| When is a child with status epilepticus likely to have Dravet syndrome? | Epilepsy research | | 2014 | 676 | 0 | ||
| Head stereotypies in STXBP1 encephalopathy | Developmental medicine and child neurology | | 2013 | 502 | 0 | ||
| Hashimoto's encephalopathy: identification and long-term outcome in children | European journal of paediatric neurology | | 2013 | 654 | 0 | ||
| Epilepsy classification: a cycle of evolution and revolution | Current opinion in neurology | | 2013 | 623 | 0 | ||
| Tracking the source of cerebellar epilepsy: hemifacial seizures associated with cerebellar cortical dysplasia | Epilepsy research | | 2013 | 666 | 1 | ||
| Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers | Epilepsia | | 2013 | 477 | 0 | ||
| Early-onset or rapidly progressive scoliosis in children: check the eyes! | European journal of paediatric neurology | | 2013 | 713 | 1 | ||
| Ohtahara syndrome or early-onset West syndrome? A case with overlapping features and favorable response to vigabatrin | European journal of paediatric neurology | | 2012 | 672 | 0 | ||
| Anti-NMDA receptor encephalitis: the importance of early diagnosis and aggressive immunotherapy in tumor negative pediatric patients | European journal of paediatric neurology | | 2012 | 602 | 1 | ||
| Partial rhombencephalosynapsis and Chiari type II malformation in a child: a true association supported by DTI tractography | Cerebellum | | 2012 | 736 | 334 | ||
| Avancées thérapeutiques dans les épilepsies réfractaires de l'enfant | Revue médicale suisse | | 2012 | 532 | 0 | ||
| Postoperative EEG in hemimegalencephaly | European neurology | | 2012 | 575 | 2 | ||
| Benzodiazepines in the acute management of seizures with autonomic manifestations: anticipate complications! | Epilepsia | | 2011 | 631 | 0 | ||
| ABCB1 polymorphisms and neuropsychiatric adverse events in oseltamivir-treated children during influenza H1N1/09 pandemia | Pharmacogenomics | | 2011 | 952 | 6 | ||
| Encephalitis associated with glutamic acid decarboxylase autoantibodies in a child: a treatable condition? | Archives of neurology | | 2011 | 710 | 0 | ||
| A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation | Epilepsia | | 2010 | 707 | 0 | ||
| Status epilepticus in fragile X syndrome | Epilepsia | | 2010 | 560 | 1 | ||
| Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti-N-methyl-D-aspartate receptor encephalitis | Developmental medicine and child neurology | | 2010 | 590 | 0 | ||
| Alexander disease: early presence of cerebral MRI criteria | European journal of paediatric neurology | | 2009 | 642 | 0 | ||
| Optic disc dysplasia in cerebral gray matter heterotopias: a valuable clinical clue | Klinische Monatsblätter für Augenheilkunde | | 2009 | 569 | 0 | ||
| Is benign myoclonic epilepsy of infancy truly idiopathic and generalized? | Epileptic disorders | | 2009 | 719 | 0 | ||
| "Gourmand syndrome" in a child with pharmacoresistant epilepsy | Epilepsy & behavior | | 2008 | 715 | 0 | ||
| Food poisoning as a cause of acute liver failure | The Pediatric infectious disease journal | | 2008 | 740 | 0 | ||
| Downbeat nystagmus as a manifestation of intrathecal morphine toxicity | European journal of anaesthesiology | | 2007 | 603 | 0 | ||
| Cryptogenic late-onset epileptic spasms or late infantile epileptogenic encephalopathy? | Epilepsia | | 2007 | 617 | 0 | ||
| Diagnosis and management of nonconvulsive status epilepticus in children | Nature clinical practice neurology | | 2007 | 579 | 0 | ||
| How can we improve the recognition of nonconvulsive status epilepticus in children? | Pediatric health | | 2007 | 493 | 0 | ||
| Etude rétrospective de 29 enfants ayant présenté une névrite optique en Suisse entre 1990 et 2000 | | 2006 | 1,733 | 872 |
