A5048858580- Cellular transport and secretion
- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Autoimmune Neurological Disorders and Treatments
- Neuroscience and Neuropharmacology Research
- Genomics and Rare Diseases
- Ion channel regulation and function
- Muscle Physiology and Disorders
- Genomic variations and chromosomal abnormalities
- Congenital Ear and Nasal Anomalies
- RNA regulation and disease
- Glycogen Storage Diseases and Myoclonus
- Glycosylation and Glycoproteins Research
- RNA Research and Splicing
- Neurological disorders and treatments
- RNA and protein synthesis mechanisms
- Hedgehog Signaling Pathway Studies
- Metabolism and Genetic Disorders
- Fetal and Pediatric Neurological Disorders
- Polyomavirus and related diseases
- Neurological diseases and metabolism
- Animal Genetics and Reproduction
- Machine Learning in Bioinformatics
- CRISPR and Genetic Engineering
- RNA modifications and cancer
University of Padua
2009-2024
Neuroscience Institute
2013-2024
National Research Council
2021-2024
University of Otago
2023
University of Genoa
2011-2018
Istituto Nazionale di Fisica Nucleare, Sezione di Padova
2006-2010
Sapienza University of Rome
2008
Institute of Neurological Sciences
2007
Neurosciences Institute
2004
University of Bologna
1988-2001
Summary: Purpose: To describe the clinical and genetic findings of seven additional pedigrees with autosomal dominant lateral temporal epilepsy (ADLTE). Methods: A personal family history was obtained from each affected unaffected member, along a physical neurologic examination. Routine sleep EEGs, computed tomography (CT), or magnetic resonance imaging (MRI) were performed in almost all patients. DNAs members typed several microsatellite markers localized on either side LGI1 at 10q24...
Objective Autosomal‐dominant lateral temporal epilepsy (ADLTE) is a genetic focal characterized by auditory symptoms. Two genes, LGI1 and RELN , encoding secreted proteins, are implicated in the etiology of ADLTE, but half affected families remain genetically unsolved, underlying molecular mechanisms yet to be clarified. We aimed identify additional genes causing ADLTE better understand basis pathway this epileptic disorder. Methods A cohort Italian was examined whole exome sequencing...
Objective Familial mesial temporal lobe epilepsy (FMTLE) is an important focal syndrome; its molecular genetic basis unknown. Clinical descriptions of FMTLE vary between a mild syndrome with prominent déjà vu to more severe phenotype febrile seizures and hippocampal sclerosis. We aimed refine the by analyzing large cohort patients asked whether common risk variants for and/or seizures, measured polygenic scores (PRS), are enriched in individuals FMTLE. Methods studied 134 families ≥ 2 first...
Telephone-induced seizures have recently been described as a distinct form of idiopathic reflex epilepsy in which are repeatedly and exclusively triggered by answering the telephone.1 Typical auras consist auditory or vertiginous symptoms inability to speak understand spoken voices. These features, along with specific EEG ictal findings one patient, suggest that this condition involves lateral temporal area.1 Autosomal dominant partial features (ADPEAF; OMIM 600512), autosomal (ADLTE), is...
Autosomal dominant lateral temporal epilepsy (ADLTE) is characterized by focal seizures with auditory features or aphasia. Mutations in the LGI1 gene have been reported up to 50% of ADLTE pedigrees. We report a family lobe psychic symptoms associated novel mutation.All participants were personally interviewed and underwent neurologic examination video-EEG recordings. exons sequenced standard methods. Mutant cDNA was transfected into human embryonic kidney 293 cells; both cell lysates media...
Summary Mutations in the DEPDC 5 ( DEP domain–containing protein 5) gene are a major cause of familial focal epilepsy with variable foci FFEVF ) and predicted to account for 12–37% families inherited epilepsies. To assess clinical impact mutations temporal lobe epilepsy, we screened collection Italian either autosomal dominant lateral ADLTE or mesial FMTLE ). The probands 28 classified as 17 were by whole exome targeted massive parallel sequencing. Putative validated Sanger We identified...
In relatively small series, autosomal dominant lateral temporal epilepsy (ADLTE) has been associated with leucine-rich, glioma-inactivated 1 (LGI1) mutations in about 50% of the families, this genetic heterogeneity being probably caused by differences clinical characteristics families. article we report overall and spectrum ADLTE Italy aim to provide new insight into its nosology basis.In a collaborative study Commission Genetics Italian League Against Epilepsy (LICE) encompassing 10-year...
Mutations of human leucine-rich glioma inactivated (LGI1) gene encoding the epitempin protein cause autosomal dominant temporal lateral epilepsy (ADTLE), a rare familial partial epileptic syndrome. The LGI1 seems to have role on transmission neuronal messages but exact molecular mechanism remains unclear. In contrast other genes involved in disorders, shows no homology with known ion channel contains two domains, composed repeated structural units, mediate protein-protein interactions. A...