A5085555630- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Tuberous Sclerosis Complex Research
- Diet and metabolism studies
- Neuroscience and Neuropharmacology Research
- Neonatal and fetal brain pathology
- Infectious Encephalopathies and Encephalitis
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Glioma Diagnosis and Treatment
- Trace Elements in Health
- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Neurofibromatosis and Schwannoma Cases
- Cerebrospinal fluid and hydrocephalus
- Autism Spectrum Disorder Research
- Glycosylation and Glycoproteins Research
- Drug Transport and Resistance Mechanisms
- Lysosomal Storage Disorders Research
- Genetic and Kidney Cyst Diseases
Istituti di Ricovero e Cura a Carattere Scientifico
2012-2023
Bambino Gesù Children's Hospital
2013-2023
Centre Hospitalier Universitaire Sainte-Justine
2021
Children's Hospital of Eastern Ontario
2021
Tel Aviv University
2021
Assaf Harofeh Medical Center
2021
Université de Montréal
2021
Schneider Children's Medical Center
2021
Fondazione IRCCS Istituto Nazionale dei Tumori
2016-2017
Ospedale Sant'Anna
2016
Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder associated with defect in neuronal migration. Clinical manifestations are epilepsy and mental retardation. This disorder, which mainly affects females, can be inherited single pedigree lissencephaly, more severe disease the male individuals. clinical entity has been described as X-SCLH/LIS syndrome. Recently we have demonstrated that doublecortin gene, localized on X chromosome, implicated this...
SUMMARY The neuropsychological performances, outcome of epilepsy and MRI topography tubers 23 children with tuberous sclerosis were reviewed. Seven had normal intelligence, 10 mental retardation, six retardation autism. An adverse association was found between the number lesions IQ, behaviour severity epilepsy. Posterior lesions, in addition to frontal‐lobe dysfunction, observed Tuberous well‐defined cerebral may represent a model for relationship different neuropsychiatric problems. RÉSUMÉ...
Mutations in the X-linked gene doublecortin, which encodes a protein with no clear structural homologues, are found pedigrees affected females show "double cortex" syndrome (DC; also known as subcortical band heterotopia or laminar heterotopia) and males lissencephaly. doublecortin cause sporadic DC females. To determine incidence of mutations DC, we investigated cohort eight 47 patients for open reading frame assessed by single-stranded conformational polymorphism analysis. were identified...
Summary: : A series of 34 children with confirmed tuberous sclerosis (TS) were studied prospectively by both EEG and magnetic resonance imaging (MRI) at ages ranging from 5 months to 18 years. Size topography the cortical tubers analyzed on axial coronal views, in T2 sequences, large >10 mm studied. In addition, follow‐up data reviewed retrospectively. Twenty‐six patients (76%) had MRI foci, 3 normal EEG, 2 MRI, remaining only small tubers. The number was significantly related foci....
To describe clinical and neuropsychological features of six consecutive sporadic girls with protocadherin 19 (PCDH19) mutations.Following recent descriptions PCDH19 mutation in epilepsy, we sequenced this gene patients infantile or early childhood seizures onset, either focal generalized, without an obvious etiology.Mean age at the time study was 13.5 ± 11 years. Mean seizure onset 15.5 months (range 9-38). All experienced clusters generalized seizures, precipitated during febrile illness...
Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of short long arms 17. Usually this abnormality results in deletion genetic material, which explains clinical features syndrome. Moreover, similar phenotypic have been observed cases with complete or partial loss telomeric repeats conservation euchromatic regions. We studied two different ring syndrome, firstly, to clarify, by analyzing gene expression analysis using real-time qPCR, role telomere absence...
Summary PCDH 19 gene mutations have been recently associated with an epileptic syndrome characterized by focal and generalized seizures. The (Xq22.1) has unusual X‐linked inheritance a selective involvement for female subjects. A cellular interference mechanism hypothesized male patients can manifest epilepsy only in the case of mosaicism. So far about 100 patients, one symptomatic described. Using targeted next generation sequencing ( NGS ) approach we found point mutation two clinical...
Abstract Congenital disorders of glycosylation are a growing group rare genetic caused by deficient protein and lipid glycosylation. Here, we report the clinical, biochemical, molecular features seven patients from four families with GALNT2-congenital disorder (GALNT2-CDG), an O-linked disorder. GALNT2 encodes Golgi-localized polypeptide N-acetyl-d-galactosamine-transferase 2 isoenzyme. is widely expressed in most cell types directs initiation mucin-type O-glycosylation. All showed loss...
Sixty-six children with various types of severe drug-resistant epilepsy were entered into a long-term, dose-rising study vigabatrin after 4-week run-in placebo period. All the receiving one to three other antiepileptic drugs, doses which not changed during 6-month dose titration phase. Following introduction vigabatrin, 11 patients became seizure free, and 28 responded greater than 50% reduction in frequency. The following favorably order decreasing efficacy: cryptogenic symptomatic partial...
Summary: The clinical and electroencephalographic data of 31 children with cryptogenic West syndrome (WS), selected from a series 103 WS patients, follow‐up between 4 12 years, were studied retrospectively to verify whether this group included patients who fulfilled the criteria for an idiopathic etiology. results identified possible etiology in 17 (55%), had family history other forms epilepsy or febrile convulsions, developed, during follow‐up, EEG genetic trait such as photoconvulsive...
Summary Purpose: Mutations of the protocadherin19 gene ( PCDH19 ) cause a female‐related epilepsy variable severity, with or without mental retardation and autistic features. Despite increasing number patients mutations reported, phenotype associated is still unclear. We analyzed seizure semiology through ictal video–electroencephalography (EEG) recordings in large series patients. Methods: studied 35 gene–related clinical history video‐EEG obtained 34 them. Key Findings: Clusters focal...
Summary Objective PCDH 19‐related epilepsy is an epileptic syndrome with infantile onset, characterized by clustered and fever‐induced seizures, often associated intellectual disability ( ID ) autistic features. The aim of this study was to analyze a large cohort patients better define the phenotype, genotype‐phenotype correlations, related outcome‐predicting factors. Methods We retrospectively collected genetic, clinical, electroencephalogram EEG data 61 followed at 15 centers. All...
Mutations in the X-linked doublecortin gene appear many sporadic cases of double cortex (DC; also known as subcortical band heterotopia), a neuronal migration disorder causing epilepsy and mental retardation. The purpose this study was to examine why significant percentage DC patients had been found not harbor mutations determine whether clinical features or magnetic resonance imaging scan appearance could distinguish between with without mutations. Magnetic analysis differentiated into...
The aim of this study was to evaluate the efficacy and tolerability levetiracetam (LEV) monotherapy in juvenile myoclonic epilepsy (JME). group consisted 32 patients with (20 males, 12 females) a mean age 13 years 3 months (SD 7y 11mo) at seizure onset. LEV administered as first drug; all were followed up 6 months. dose that achieved control ranged from 1000 2500mg/daily. At 6‐month evaluation: 15 free; 14 responders (>50% reduction seizures); three had marginal effects (<50%...
Patients affected by protocadherin 19 (PCDH19)-female limited epilepsy (PCDH19-FE) present a remarkable reduction in allopregnanolone blood levels. However, no information is available on other neuroactive steroids and the steroidogenic response to hormonal stimulation. For this reason, we evaluated allopregnanolone, pregnanolone, pregnenolone sulfate liquid chromatographic procedures coupled with electrospray tandem mass spectrometry 12 unrelated patients 15 age-matched controls. We also...