77 results match your criteria: "University Hospitals of Lyon (HCL)[Affiliation]"
Am J Med Genet A
December 2024
Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.
View Article and Find Full Text PDFSeizure
November 2024
Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Maraweg 21, 33617, Bielefeld, Germany. Electronic address:
Epileptic Disord
December 2024
Department of Pediatric Epileptology, Functional Neurology and Sleep Disorders, Hôpital Femme Mère Enfant, University Hospitals of Lyon (HCL), Member of ERN EpiCARE, Lyon, France.
Ann Neurol
August 2024
Neurology Department, University Hospital, Saint-Etienne, France.
Objective: There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro-encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern.
Methods: In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants.
Epilepsia Open
June 2024
Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, Lyon, France.
Objective: The increasingly rapid pace of advancement in genetic testing may lead to inequalities in technical and human resources with a negative impact on optimal epilepsy clinical practice. In this view, the European Reference Network (ERN) for Rare and Complex Epilepsies EpiCARE conducted a survey addressing several aspects of accessibility, availability, costs, and standard practices on genetic testing across ERN EpiCARE centers.
Methods: An online Google form was sent to 70 representatives of ERN EpiCARE centers.
Eur J Paediatr Neurol
March 2024
Duke University Department of Pediatrics, Division of Pediatric Neurology and Developmental Medicine, Durham, NC, USA. Electronic address:
Ann Clin Transl Neurol
March 2024
UCB Pharma, Morrisville, North Carolina, USA.
Objective: Double-blind, randomized, and placebo-controlled trial SP0967 (NCT02477839/2013-000717-20) did not demonstrate superior efficacy of lacosamide versus placebo in patients aged ≥1 month to <4 years with uncontrolled focal seizures, per ≤72 h video-electroencephalogram (video-EEG)-based primary endpoints (reduction in average daily frequency of focal seizures at end-of-maintenance [EOM] versus end-of-baseline [EOB], patients with ≥50% response). This was unexpected because randomized controlled trial SP0969 (NCT01921205) showed efficacy of lacosamide in patients aged ≥4 to <17 years with uncontrolled focal seizures. SP0969's primary endpoint was based on seizure diary instead of video-EEG, an issue with the latter being inter-reader variability.
View Article and Find Full Text PDFNeurology
February 2024
From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany.
Eur J Hum Genet
February 2024
Division of Pharmacology and Experimental Therapeutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
J Neurol
February 2024
Institute of Myology, EURO-NMD coordination, Pitié-Salpêtrière Hospital, APHP Sorbonne University, Paris, France.
J Child Neurol
October 2023
Department of Pediatrics, Division of Pediatric Neurology and Developmental Medicine, Duke University, Durham, NC, USA.
Eur J Paediatr Neurol
September 2023
Duke University Department of Pediatrics, Division of Pediatric Neurology and Developmental Medicine, Durham, NC, USA; Department of Neurobiology, Duke University, Durham, NC, USA. Electronic address:
Epilepsia
November 2023
UCB Pharma, Morrisville, North Carolina, USA.
Objective: To evaluate the safety, tolerability, pharmacokinetics, and preliminary efficacy of lacosamide (LCM) (up to 12 mg/kg/day or 600 mg/day) as adjunctive therapy in pediatric patients with epilepsy syndromes associated with generalized seizures.
Methods: Phase 2, multicenter, open-label exploratory trial (SP0966; NCT01969851; 2012-001446-18) of oral LCM for epilepsy syndromes associated with generalized seizures in pediatric patients ≥1 month to <18 years of age taking one to three concomitant antiseizure medications. The trial comprised a 6-week prospective baseline period, 6-week flexible titration period, and 12-week maintenance period.
Mov Disord
September 2023
APHP, Salpêtrière Hospital, DMU Neurosciences, Paris, France.
Brain
August 2023
Division of Pediatric Neurology and Developmental Medicine, Department of Pediatrics, and Department of Neurobiology, Duke University, Durham, NC 27708, USA.
Mov Disord
May 2023
Assistance Publique - Hôpitaux de Paris (APHP), Salpêtrière Hospital, Medical and Universitary Department (DMU) neurosciences, Paris, France.
Epilepsia
October 2022
Department of Human Neurosciences, Sapienza, University of Rome, Rome, Italy.
Objective: Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome.
View Article and Find Full Text PDFEpilepsia Open
March 2023
Section Pediatric Neurology, Department of Development and Regeneration, University Hospital KU Leuven, Leuven, Belgium.
Objective: Antiseizure medications (ASMs) remain the mainstay of epilepsy treatment. These ASMs have mainly been tested in trials in adults with epilepsy, which subsequently led to market authorization (MA). For treatment of - especially young - children with epilepsy, several ASMs do not have a MA and guidelines are lacking, subsequently leading to "off-label" use of ASMs.
View Article and Find Full Text PDFEur J Paediatr Neurol
November 2022
Department of Child Neurology, Epilepsy and Neurophysiology Unit, Member of the ERN EpiCARE, Hospital Sant Joan de Dèu, Passeig Sant Joan de Déu, Barcelona, Spain; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of ERN-EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.
Objetive: Analyze pre-surgical evaluation modalities, surgical failures, long-term results of surgery and neurocognitive outcome in children with Low-grade Epilepsy Associated brain Tumors (LEAT).
Methods: Retrospective observational study of 37 children who underwent epilepsy surgery, with a minimum follow-up of 12 months. At time of surgery, pharmaco-sensitivity (Group 1; n = 8) and drug-resistance (Group 2; n = 29), were considered.
Eur J Med Genet
December 2022
Department of Pediatric Neurology; Member of ERN-EpiCARE; Rare Disease Reference Centre for Intellectual Disability, University Hospitals of Lyon (HCL), And University Lyon1, Lyon, France.
Xq25 microduplication involving exclusively STAG2 is a new distinctive cohesinopathy including mild to moderate intellectual disability, speech delay and facial dysmorphism. Seizures seem to be scarce, but detailed seizure type descriptions are missing. We report the case of an 8-year-old boy with mild intellectual disability and eyelid myoclonia with onset at age of 3 years, initially misinterpreted as tics.
View Article and Find Full Text PDFEur J Med Genet
September 2022
Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.
In past decades, the identification of genes involved in epileptic disorders has grown exponentially. The pace of gene identification in epileptic disorders began to accelerate in the late 2000s, driven by new technologies such as molecular cytogenetics and next-generation sequencing (NGS). These technologies have also been applied to genetic diagnostics, with different configurations, such as gene panels, whole-exome sequencing and whole-genome sequencing.
View Article and Find Full Text PDFEpileptic Disord
October 2022
Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Canada
The ILAE Academy is the online learning platform of the International League Against Epilepsy (ILAE) and offers a structured educational program addressing the competency-based ILAE curriculum in epileptology. The platform was launched in July 2020 with a self-paced course portfolio of interactive e-learning modules addressing ILAE Level 1 learning objectives, defined as the entry level in epileptology. Using feedback questionnaires from completed Level 1 courses as well as sociodemographic and learning-related data obtained from 47 participants, we show that over 50% of learners have an entry level in epileptology and do not have access to on-site training and over 40%do not have access to on-site training.
View Article and Find Full Text PDFEBioMedicine
July 2022
Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Department of Neurology, University Hospital, Antwerp, Belgium; µNEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium. Electronic address:
Background: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional properties associated with KCNQ2 missense variants R144W, R144Q, and R144G. We also explored in vitro blockade of channels carrying R144Q mutant subunits by amitriptyline.
View Article and Find Full Text PDFEpilepsia
October 2022
Department of Pediatric Neurology, AP-HM, La Timone Children's Hospital, Marseille, France.
Objective: γ-Aminobutyric acid (GABA) -receptor subunit variants have recently been associated with neurodevelopmental disorders and/or epilepsy. The phenotype linked with each gene is becoming better known. Because of the common molecular structure and physiological role of these phenotypes, it seemed interesting to describe a putative phenotype associated with GABA -receptor-related disorders as a whole and seek possible genotype-phenotype correlations.
View Article and Find Full Text PDFBrain
November 2022
Université Côte d'Azur, 06560 Valbonne-Sophia Antipolis, France.
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3.
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