Eleni Panagiotakaki
A5050450542- Epilepsy research and treatment
- Ion Transport and Channel Regulation
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Gastroesophageal reflux and treatments
- Ion channel regulation and function
- Metabolism and Genetic Disorders
- Pharmacological Effects and Toxicity Studies
- Trace Elements in Health
- Pharmaceutical studies and practices
- Fetal and Pediatric Neurological Disorders
- Cardiac electrophysiology and arrhythmias
- Diet and metabolism studies
- Heavy Metal Exposure and Toxicity
- Mitochondrial Function and Pathology
- Face Recognition and Perception
- Drug Transport and Resistance Mechanisms
- Amino Acid Enzymes and Metabolism
- RNA and protein synthesis mechanisms
- Neurological disorders and treatments
- Neuroscience and Neuropharmacology Research
- Iron Metabolism and Disorders
- Neonatal and fetal brain pathology
- Glycosylation and Glycoproteins Research
- Blood Coagulation and Thrombosis Mechanisms
Hôpital Femme Mère Enfant
2010-2024
Hospices Civils de Lyon
2014-2024
Centre de Recherche en Neurosciences de Lyon
2013-2024
ERN EpiCARE
2020-2024
European Clinical Research Infrastructure Network
2024
Université Claude Bernard Lyon 1
2017-2024
Sapienza University of Rome
2022
Istituto delle Scienze Neurologiche di Bologna
2022
Inserm
2013-2022
Centre National de la Recherche Scientifique
2013-2022
PurposeTo define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 NPRL3 genes encoding GATOR1 complex, a negative regulator mTORC1 pathwayMethodsWe analyzed clinical genetic data 73 novel probands (familial sporadic) with epilepsy-related variants in GATOR1-encoding proposed new guidelines for interpretation variants.ResultsThe seizure phenotype consisted mostly focal seizures (e.g., hypermotor or frontal lobe 50%), mean age at onset 4.4 years, often...
<h3>Objective</h3> We aimed to delineate the neurodevelopmental spectrum associated with <i>SYNGAP1</i> mutations and investigate genotype–phenotype correlations. <h3>Methods</h3> sequenced exome or screened exons of in a total 251 patients disorders. Molecular clinical data from other centres were also collected, focusing on developmental aspects epilepsy phenotype. A review published literature was performed. <h3>Results</h3> describe 17 unrelated affected individuals carrying 13 different...
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well milder phenotypes associated with genetic febrile seizures plus. Gain of function SCN1A are familial hemiplegic migraine type 3. Novel SCN1A-related have been described including early infantile developmental and epileptic encephalopathy movement disorder, more recently neonatal presentations arthrogryposis. Here we describe clinical, functional evaluation affected...
Mutations in the gene ATP1A3 have recently been identified to be prevalent patients with alternating hemiplegia of childhood (AHC2). Based on a large series AHC, we set out identify spectrum different mutations within and further establish any correlation phenotype. Clinical data from an international cohort 155 AHC (84 females, 71 males; between 3 months 52 years) were gathered using specifically formulated questionnaire analysed relative mutational for each patient. In total, 34 detected...
Alternating hemiplegia of childhood is a neurological disorder characterized by episodes hemiplegia, various non-epileptic paroxysmal events and global impairment. Characterization the evolution outcome into adulthood has not been sufficiently investigated. The goal this study was to elucidate natural history alternating within large cohort 157 patients, as part European Network for Research on Hemiplegia project. A questionnaire formulated determine severity both impairment address...
Importance Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3 -encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC primarily neurologic disease, some individuals experience sudden unexplained death (SUD) potentially associated with cardiac arrhythmias. Objective To determine the impact on electrophysiology and whether lethal ventricular arrhythmias are SUD patients AHC. Design, Setting, Participants In this...
Benign childhood epilepsy with centro-temporal spikes (BCECTS) is a unique form of non-lesional age-dependent rare seizures, focal electroencepalographic abnormalities affecting the same well delineated cortical region in most patients, and frequent mild to moderate cognitive dysfunctions. In this condition, it hypothesized that interictal discharges might interfere local brain maturation, resulting altered cognition. Diffusion tensor imaging allows testing hypothesis by investigating white...
Abstract Wilson disease (WND) is caused by mutations in the ATP7B gene and exhibits substantial allelic heterogeneity. In this study we report results of molecular analyses 20 WND families not described previously. When combined with our prior results, cohort includes 93 index patients from 69 unrelated families. Twenty different accounted for 86% chromosomes. The most frequent were p.H1069Q (35%), p.R969Q (12%), c.2530delA (7%), p.L936X p.Q289X p.I1148T (3%). We also present here a detailed...
ABSTRACT Objectives: Wilson disease (WD) has a wide spectrum of clinical manifestations. Affected children may be entirely asymptomatic and the diagnosis problematic. Herein we present laboratory characteristics 57 with WD point out diagnostic difficulties in pediatric population. Patients Methods: Clinical data were collected from consecutive WD. Evaluation included detailed physical examination, conventional testing, genetic analysis, liver biopsy. Results: The mean age at was 9.27 ± 3.62...
Eyelid myoclonia (EM) with absences (EMA) is a generalized epilepsy syndrome prognosis and clinical characteristics that are still partially undefined. We investigated electroclinical endophenotypes long-term seizure outcome in large cohort of patients EMA.In this multicenter retrospective study, EMA ≥5 years follow-up were included. prognostic patterns sustained terminal remission (STR), along their factors. Moreover, 2-step cluster analysis was used to investigate the presence distinct...
Abstract Objective YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of large cohort, which doubles the number reported patients, we further delineate spectrum ‐related epilepsy. Methods We included in this study 24 21 new three previously described, pathogenic/likely pathogenic...
To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia childhood (AHC), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis at least 1 assessment were included. We evaluated phenotype an Atp1a3 knock-in mouse (Mashl+/-) to determine sequence events seizure-related...
Objective GLUT1 deficiency syndrome (Glut1DS) is a treatable neurometabolic disease that causes wide range of neurological symptoms in children and adults. However, its diagnosis relies on an invasive test, i.e., lumbar puncture (LP) to measure glycorrhachia, and, sometimes complex, molecular analyses the <i>SLC2A1</i> gene. This procedure limits number patients able receive standard care. We wished validate diagnostic performance METAglut1™, simple blood test quantifies at erythrocyte...
Congenital disorders of glycosylation (CDG) are a group inborn errors metabolism presenting with heterogeneous multisystemic clinical manifestations. To date, more than 60 different types CDG have been reported. ALG3-CDG is very rare, only nine patients described so far. We report two affected siblings prenatally skeletal abnormalities associated dysmorphic features, cerebellar vermis hypoplasia, corpus callosum agenesis, hepatic fibrosis and poor prognosis. This the first detailed an fetus...
Summary Objective We hypothesized that children with benign childhood epilepsy centrotemporal spikes ( BCECTS ) might have altered social cognitive skills and underlying neural networks. Methods studied 13 patients 11 age‐matched controls using event‐related functional magnetic resonance imaging fMRI an emotional discrimination task consisting of viewing happy, fearful, scrambled, neutral faces. Behavioral performance measured during the was correlated clinical variables behavioral ratings....
Aim . A high rate of abnormal social behavioural traits or perceptual deficits is observed in children with unilateral temporal lobe epilepsy. In the present study, perception auditory and visual signals, carried by faces voices, was evaluated adolescents Methods We prospectively investigated a sample 62 focal non‐idiopathic epilepsy early course disorder. The analysis included 39 confirmed diagnosis Control participants (72), distributed across 10 age groups, served as control group. Our...
To assess nonparoxysmal movement disorders in ATP1A3 mutation-positive patients with alternating hemiplegia of childhood (AHC).Twenty-eight underwent neurologic examination particular focus on phenomenology by a specialist disorders. Video recordings were reviewed another and data correlated patients' characteristics.Ten diagnosed chorea, 16 dystonia (nonparoxysmal), 4 myoclonus, 2 ataxia. Nine had more than one disorder 8 none. The degree was moderate to severe 12/28 patients. At inclusion,...
Epilepsy with eyelid myoclonia (EEM) has been associated marked clinical heterogeneity. Early epilepsy onset recently linked to lower chances of achieving sustained remission and a less favorable neuropsychiatric outcome. However, much work is still needed better delineate this syndrome.
In this study, we report the further results of an ongoing project on delineation spectrum mutations ATP7B gene in Wilson disease (WD) patients Greek origin. We have analyzed 24 additional families and detected 16 (five frameshifts, two splice site, nonsense, seven missense), which six are novel. On adding these to ones already published by us, conclude that WD shows a marked allelic heterogeneity population. Of total number so far detected, most common eight account for molecular defect...
Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study specifically explored the variability of clinical presentation according to sex this syndrome. Here, we aimed investigate sex-specific electroclinical differences and prognostic determinants EEM. Data from 267 EEM patients were retrospectively analyzed by Study Group, dedicated multivariable logistic regression analysis was developed separately for each sex. We found that...