A5090880911- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Congenital gastrointestinal and neural anomalies
- Genomics and Rare Diseases
- Intestinal Malrotation and Obstruction Disorders
- Williams Syndrome Research
- Pharmacological Effects and Toxicity Studies
- Fetal and Pediatric Neurological Disorders
- Ion channel regulation and function
- EEG and Brain-Computer Interfaces
- Pediatric Urology and Nephrology Studies
- Pediatric Hepatobiliary Diseases and Treatments
- Congenital heart defects research
- Language Development and Disorders
- Vascular anomalies and interventions
- Neurological disorders and treatments
- Maternal Mental Health During Pregnancy and Postpartum
- Child and Adolescent Psychosocial and Emotional Development
- Congenital Ear and Nasal Anomalies
- Ophthalmology and Visual Impairment Studies
- Diverse Scientific and Economic Studies
- Neurobiology of Language and Bilingualism
- Genomic variations and chromosomal abnormalities
- Childhood Cancer Survivors' Quality of Life
- Cellular Automata and Applications
IRCCS Eugenio Medea
2010-2022
University of Pavia
2004-2006
Fondazione Istituto Neurologico Nazionale Casimiro Mondino
2006
Università Cattolica del Sacro Cuore
2005
Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies caused by heterozygous mutation of the ZEB2 gene. It generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed better delineate phenotype, natural history, genotype-phenotype correlations MWS.In collaborative study, analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described prevalence all aspects,...
PurposeMowat–Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital eye anomalies, heart defects, caused haploinsufficiency of the ZEB2 gene. To date, no characteristic pattern brain dysmorphology in MWS has been defined.MethodsThrough magnetic resonance imaging (MRI) analysis, we delineated neuroimaging phenotype 54 patients with proven defect,...
Background Mutations in the calcium channel voltage dependent P/Q-type α-1A subunit ( CACNA1A ) can cause different neurological disorders which share a wide range of symptoms, including episodic ataxia type 2 (EA2), familial hemiplegic migraine (FHM1) and progressive spinocerebellar (SCA6). Objective To describe three generations family spectrum phenotypes, ranging from SCA6 (proband), to EA2 (proband's mother) FHM1 mother proband's aunt) was found. All members carried novel missense...
Abstract Mowat–Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and characterized distinctive facial features, epilepsy, moderate to severe intellectual disability, corpus callosum abnormalities other congenital malformations. Epilepsy considered main manifestation syndrome, with prevalence about 70–75%. In order delineate electroclinical phenotype epilepsy in MWS, we investigated onset evolution, including seizure types, EEG response...
<h3>Background</h3> Sodium channel alpha 1 subunit gene,<i>SCN1A</i>, is the gene encoding neuronal voltage-gated sodium α (Na<sub>v</sub>1.1) and mutated in different forms of epilepsy. Mutations this were observed more than 70% patients with severe myoclonic epilepsy infancy (SMEI) also found types infantile epileptic encephalopathy. <h3>Objective</h3> To search for disease-causing mutations in<i>SCN1A</i>in cryptogenic syndromes (ie, an unknown cause). <h3>Design</h3> Clinical...
Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for subunit caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main features include early-onset epilepsy intellectual disability. Despite lack cases described, it appears that POBINDS could manifest with wide range phenotypes, possibly related different CSNK2B. Our multicentric, retrospective study recruited nine patients POBINDS, detected...
Summary: Purpose: Several studies have reported behavioral and electrophysiological evidence of visual impairment during the active stage West syndrome. The underlying mechanisms are, however, poorly understood, little has been about correlation between impairment, EEG patterns, brain lesions. aim study was to assess function at onset spasm 2 months thereafter relate findings lesions features. Methods: Twenty‐five infants with syndrome were enrolled studied (a) a full clinical assessment...
The aim of this study was to evaluate cognitive development at the onset West syndrome (WS) with regard electroencephalogram (EEG) patterns and visual function. Twenty-five patients (14 males, 11 females) spasms (T0) in WS 2 months later (T1) underwent a full clinical evaluation, including neuroimaging, assessment, video-EEG, Mean age spasm 5.9 (SD 2.5; range 13mo). Cognitive development, assessed Griffiths Mental Development Scales (GMDS), generally impaired T0 significantly related...
Pathogenic variants of the SCN2A gene (MIM 182390) are associated with several epileptic syndromes ranging from benign familial neonatal-infantile seizures (BFNIS) to early infantile encephalopathy. The aim this work was describe clinical features among five patients concomitant and cryptogenic syndromes, thus expanding spectrum phenotypic heterogeneity. De novo were identified in four patients, while one inherited variant a patient an unaffected carrier biological father somatic mosaicism....
The aim of this study was to evaluate cognitive development at the onset West syndrome (WS) with regard electroencephalogram (EEG) patterns and visual function. Twenty‐five patients (14 males, 11 females) spasms ( T 0 ) in WS 2 months later 1 underwent a full clinical evaluation, including neuroimaging, assessment, video‐EEG, Mean age spasm 5.9 (SD 2.5; range 13mo). Cognitive development, assessed Griffiths Mental Development Scales (GMDS), generally impaired significantly related function p...
We report on a child, aged 4
Il crescente interesse per i Disturbi Specifici dell'Apprendimento e, in particolare, la dislessia, sta oggi alla base di molte ricerche mirate a chiarirne le determinanti neurobiologiche, scopo sia preventivo che terapeutico. In questo contesto assume un particolare rilievo anche questione dei rapporti tra DSA e patologia epilettica. L'articolo contiene un'esauriente revisione degli studi finora condotti sulle relazioni quadri dislessia discalculia forme epilessia idiopatiche sintomatiche,...