CK
Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
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Long-term memory consolidation of new words in children with self-limited epilepsy with centro-temporal spikes | Epilepsy & behavior | 2024 | 103 | 74 | |||
Diagnostic potential of IL6 and other blood-based inflammatory biomarkers in mild traumatic brain injury among children | Frontiers in neurology | 2024 | 2 | 0 | |||
Management of Pediatric Mild Traumatic Brain Injury Patients : S100b, Glial Fibrillary Acidic Protein, and Heart Fatty-Acid-Binding Protein Promising Biomarkers | Neurotrauma reports | 2024 | 1 | 0 | |||
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R | Cells | 2023 | 56 | 11 | |||
Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | 2023 | 94 | 4 | |||
Letter on : 3D figure of epilepsy syndromes | Epilepsia open | 2023 | 14 | 7 | |||
Feasibility, tolerability and efficacy of the ketogenic diet in children with drug-resistant epilepsy in Vietnam | Epilepsia open | 2023 | 12 | 15 | |||
Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms | Frontiers in immunology | 2022 | 220 | 88 | |||
Updates on the diagnostic evaluation, genotype-phenotype correlation, and treatments of genetic epilepsies | Current opinion in pediatrics | 2022 | 30 | 9 | |||
High density electric source imaging in childhood-onset epilepsy due to focal cortical dysplasia | Clinical neurophysiology practice | 2022 | 11 | 16 | |||
A review of targeted therapies for monogenic epilepsy syndromes | Frontiers in neurology | 2022 | 23 | 8 | |||
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency : a cohort study | Developmental medicine & child neurology | 2022 | 35 | 0 | |||
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood | Neurology | 2022 | 46 | 15 | |||
Structural brain abnormalities in epilepsy with myoclonic atonic seizures | Epilepsy research | 2021 | 47 | 42 | |||
Ketogenic diet treatment in diffuse intrinsic pontine glioma in children: Retrospective analysis of feasibility, safety, and survival data | Cancer reports | 2021 | 210 | 132 | |||
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder | Clinical genetics | 2021 | 100 | 22 | |||
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy | Epilepsia | 2021 | 37 | 63 | |||
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns | Genetics in Medicine | 2021 | 194 | 0 | |||
Status Epilepticus in Children | Journal of Clinical Neurophysiology | 2020 | 153 | 0 | |||
Localizing non-epileptiform abnormal brain function in children using high density EEG: Electric Source Imaging of focal slowing | Epilepsy Research | 2020 | 302 | 0 | |||
Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy | European Journal of Paediatric Neurology | 2020 | 150 | 0 | |||
Lessons learned from 40 novel PIGA patients and a review of the literature | Epilepsia | 2020 | 148 | 0 | |||
Modulation of epileptic networks by transient interictal epileptic activity: a dynamic approach to simultaneous EEG-fMRI | NeuroImage: Clinical | 2020 | 297 | 279 | |||
SCN8A heterozygous variants are associated with anoxic-epileptic seizures | American Journal of Medical Genetics. A | 2020 | 197 | 1 | |||
Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists | Developmental Medicine and Child Neurology | 2019 | 331 | 0 | |||
The spectrum of intermediate SCN8A-related epilepsy | Epilepsia | 2019 | 238 | 0 | |||
Clinical and genetic spectrum of SCN2A-associated episodic ataxia | European Journal of Paediatric Neurology | 2019 | 239 | 0 | |||
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation | Neuropediatrics | 2019 | 242 | 0 | |||
Comment on: Ketogenic diet treatment in recurrent diffuse intrinsic pontine glioma in children: a safety and feasibility study | Pediatric Blood and Cancer | 2019 | 226 | 0 | |||
What to do in failed hemispherotomy? Our clinical series and review of the literature | Neurosurgical Review | 2018 | 555 | 3 | |||
Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report | Developmental Medicine and Child Neurology | 2018 | 286 | 1 | |||
Why the TimeToStop trial failed to recruit: a survey on antiepileptic drug withdrawal after paediatric epilepsy surgery | Epileptic Disorders | 2018 | 312 | 0 | |||
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis | Genome Medicine | 2018 | 292 | 139 | |||
De novo variants in neurodevelopmental disorders with epilepsy | Nature Genetics | 2018 | 261 | 0 | |||
NBEA: Developmental disease gene with early generalized epilepsy phenotypes | Annals of Neurology | 2018 | 278 | 0 | |||
A triad of infantile spasms, nystagmus and a focal tonic seizure | Epileptic Disorders | 2018 | 345 | 1 | |||
Desaturation during cry in the neonatal period | Global Pediatric Health | 2018 | 379 | 149 | |||
Circulating neural antibodies in unselected children with new-onset seizures | European Journal of Paediatric Neurology | 2018 | 262 | 0 | |||
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU | Human Genetics | 2017 | 387 | 1 | |||
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | 2017 | 483 | 2 | |||
The Immune System in Pediatric Seizures and Epilepsies | Pediatrics | 2017 | 400 | 0 | |||
An epidemic of dystonic reactions in central Africa | The Lancet Global Health | 2017 | 376 | 222 | |||
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects | Journal of Medical Genetics | 2017 | 405 | 1 | |||
Drug-Level Monitoring on Admission for Presurgical Epilepsy Evaluation | European Neurology | 2017 | 482 | 0 | |||
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies | Brain | 2017 | 391 | 1 | |||
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy | Journal of Medical Genetics | 2016 | 280 | 2 | |||
Pediatric epilepsy surgery: could age be a predictor of outcomes? | Journal of Neurosurgery: Pediatrics | 2016 | 491 | 0 | |||
Epileptic networks are strongly connected with and without the effects of interictal discharges | Epilepsia | 2016 | 604 | 1 | |||
Diabetic Striatopathy in Childhood: A Case Report | Pediatrics | 2016 | 578 | 1 | |||
Yield of MRI, high-density electric source imaging (HD-ESI), SPECT and PET in epilepsy surgery candidates | Clinical neurophysiology | 2016 | 619 | 1 | |||
Combined VIth and VIIth nerve palsy: Consider idiopathic intracranial hypertension! | European journal of paediatric neurology | 2016 | 566 | 0 | |||
Riboflavin in cyclic vomiting syndrome: efficacy in three children | European journal of pediatrics | 2016 | 489 | 0 | |||
Successful treatment of neonatal atypical hemolytic uremic syndrome with C5 monoclonal antibody | Archives de pédiatrie | 2016 | 646 | 0 | |||
Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects | Molecular syndromology | 2016 | 495 | 0 | |||
Epileptic spasms in epilepsy with myoclonic-atonic seizures (Doose syndrome) | Epileptic Disorders | 2016 | 596 | 0 | |||
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? | European journal of paediatric neurology | 2015 | 510 | 0 | |||
Vaccinations and Dravet Syndrome | Pediatric neurology briefs | 2015 | 386 | 152 | |||
A practical, simple, and useful method of categorizing interictal EEG features in children | Neurology | 2015 | 467 | 0 | |||
Clinical Variability of GLUT1DS | Pediatric neurology briefs | 2015 | 401 | 363 | |||
Editorial commentary on "Refractory absence seizures: An Italian multicenter retrospective study" by E. Franzoni et al | European journal of paediatric neurology | 2015 | 384 | 0 | |||
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy | Nature genetics | 2015 | 514 | 1 | |||
A child with ictal vocalizations and generalized epilepsy | Epileptic disorders | 2015 | 540 | 0 | |||
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene | Journal of neurology, neurosurgery and psychiatry | 2015 | 477 | 0 | |||
Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome | Epilepsia | 2015 | 481 | 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 | 611 | 0 | |||
The immune system in pediatric seizures and epilepsies: current state of knowledge | 2014 | 434 | 70 | ||||
Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report | Neuropediatrics | 2014 | 526 | 0 | |||
Autoimmunity and inflammation in status epilepticus: from concepts to therapies | Expert review of neurotherapeutics | 2014 | 463 | 0 | |||
Epilepsy: old syndromes, new genes | Current neurology and neuroscience reports | 2014 | 484 | 0 | |||
Towards the identification of a genetic basis for Landau-Kleffner syndrome | Epilepsia | 2014 | 581 | 0 | |||
Localization of the epileptogenic tuber with electric source imaging in patients with tuberous sclerosis | Epilepsy research | 2014 | 639 | 0 | |||
When is a child with status epilepticus likely to have Dravet syndrome? | Epilepsy research | 2014 | 604 | 0 | |||
Head stereotypies in STXBP1 encephalopathy | Developmental medicine and child neurology | 2013 | 451 | 0 | |||
Hashimoto's encephalopathy: identification and long-term outcome in children | European journal of paediatric neurology | 2013 | 602 | 0 | |||
Epilepsy classification: a cycle of evolution and revolution | Current opinion in neurology | 2013 | 536 | 0 | |||
Tracking the source of cerebellar epilepsy: hemifacial seizures associated with cerebellar cortical dysplasia | Epilepsy research | 2013 | 604 | 1 | |||
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers | Epilepsia | 2013 | 407 | 0 | |||
Early-onset or rapidly progressive scoliosis in children: check the eyes! | European journal of paediatric neurology | 2013 | 662 | 1 | |||
Ohtahara syndrome or early-onset West syndrome? A case with overlapping features and favorable response to vigabatrin | European journal of paediatric neurology | 2012 | 593 | 0 | |||
Anti-NMDA receptor encephalitis: the importance of early diagnosis and aggressive immunotherapy in tumor negative pediatric patients | European journal of paediatric neurology | 2012 | 562 | 1 | |||
Partial rhombencephalosynapsis and Chiari type II malformation in a child: a true association supported by DTI tractography | Cerebellum | 2012 | 656 | 257 | |||
Avancées thérapeutiques dans les épilepsies réfractaires de l'enfant | Revue médicale suisse | 2012 | 490 | 0 | |||
Postoperative EEG in hemimegalencephaly | European neurology | 2012 | 526 | 2 | |||
Benzodiazepines in the acute management of seizures with autonomic manifestations: anticipate complications! | Epilepsia | 2011 | 574 | 0 | |||
ABCB1 polymorphisms and neuropsychiatric adverse events in oseltamivir-treated children during influenza H1N1/09 pandemia | Pharmacogenomics | 2011 | 907 | 6 | |||
Encephalitis associated with glutamic acid decarboxylase autoantibodies in a child: a treatable condition? | Archives of neurology | 2011 | 606 | 0 | |||
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation | Epilepsia | 2010 | 635 | 0 | |||
Status epilepticus in fragile X syndrome | Epilepsia | 2010 | 505 | 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 | 537 | 0 | |||
Alexander disease: early presence of cerebral MRI criteria | European journal of paediatric neurology | 2009 | 587 | 0 | |||
Optic disc dysplasia in cerebral gray matter heterotopias: a valuable clinical clue | Klinische Monatsblätter für Augenheilkunde | 2009 | 538 | 0 | |||
Is benign myoclonic epilepsy of infancy truly idiopathic and generalized? | Epileptic disorders | 2009 | 619 | 0 | |||
"Gourmand syndrome" in a child with pharmacoresistant epilepsy | Epilepsy & behavior | 2008 | 657 | 0 | |||
Food poisoning as a cause of acute liver failure | The Pediatric infectious disease journal | 2008 | 684 | 0 | |||
Downbeat nystagmus as a manifestation of intrathecal morphine toxicity | European journal of anaesthesiology | 2007 | 558 | 0 | |||
Cryptogenic late-onset epileptic spasms or late infantile epileptogenic encephalopathy? | Epilepsia | 2007 | 549 | 0 | |||
Diagnosis and management of nonconvulsive status epilepticus in children | Nature clinical practice neurology | 2007 | 518 | 0 | |||
How can we improve the recognition of nonconvulsive status epilepticus in children? | Pediatric health | 2007 | 468 | 0 | |||
Etude rétrospective de 29 enfants ayant présenté une névrite optique en Suisse entre 1990 et 2000 | 2006 | 1,598 | 762 |