Thea Giacomini
A5057650804- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Peripheral Neuropathies and Disorders
- Multiple Sclerosis Research Studies
- RNA modifications and cancer
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- Neonatal and fetal brain pathology
- RNA regulation and disease
- Neuroscience and Neuropharmacology Research
- Moyamoya disease diagnosis and treatment
- Mitochondrial Function and Pathology
- Vascular Malformations Diagnosis and Treatment
- EEG and Brain-Computer Interfaces
- Autoimmune Neurological Disorders and Treatments
- Metabolism and Genetic Disorders
- Cerebrospinal fluid and hydrocephalus
- Neonatal and Maternal Infections
- Neurological Complications and Syndromes
- RNA Research and Splicing
- Systemic Lupus Erythematosus Research
- Neurological disorders and treatments
- Autism Spectrum Disorder Research
Istituto Giannina Gaslini
2015-2024
University of Genoa
2015-2024
ASL Roma
2023-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2019-2023
Cognitive Research (United States)
2022
Guy's and St Thomas' NHS Foundation Trust
2022
Evelina London Children's Healthcare
2022
King's College London
2022
Moscow Research and Clinical Center for Neuropsychiatry
2017-2018
Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies variable severity. Furthermore, few patients intellectual disability (ID) or movement disorders without reported. The vast majority the published suffer severe developmental and encephalopathy (DEE). In this study, we aimed provide further insight on milder SCN8A-related epilepsies.A cohort 1095 were screened using...
<h3>Background and Objectives</h3> We sought to identify early factors associated with relapse outcome in paediatric-onset myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD). <h3>Methods</h3> In a multicenter retrospective cohort of pediatric MOGAD (≤18 years), onset features treatment were compared patients monophasic vs relapsing disease (including cases follow-up ≥12 months after or at any time) final Expanded Disability Status Scale (EDSS) 0 ≥1 last >3 event...
Background IgG antibodies against myelin oligodendrocyte glycoprotein (MOG-IgG) define a subset of associated disorders (myelin (MOGAD)) that can have relapsing course. However, information on relapse predictors is scarce. The utility retesting MOG-IgG over time and measuring their titres uncertain. We aimed to evaluate the clinical relevance longitudinal titre measurement predict relapses in patients with MOGAD. Methods In this retrospective multicentre Italian cohort study, we recruited...
Abstract Objective The intricate neuroanatomical structure of the cerebellum is longstanding interest in epilepsy, but has been poorly characterized within current corticocentric models this disease. We quantified cross‐sectional regional cerebellar lobule volumes using structural magnetic resonance imaging 1602 adults with epilepsy and 1022 healthy controls across 22 sites from global ENIGMA‐Epilepsy working group. Methods A state‐of‐the‐art deep learning‐based approach was employed that...
Clinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary severity outcome, the genotypic spectrum is diverse. We aim to trace neurodevelopmental trajectories individuals with STXBP1-DEE dissect relationship between neurodevelopment epilepsy.Retrospective standardized clinical data were collected through international collaboration. A composite score system compared STXBP1-DEE.Forty-eight patients de novo variants a history of epilepsy included (age range at...
Abstract Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is neurodegenerative condition caused by biallelic TPP1 variants. This disorder presents with subtle relatively non-specific symptoms, mimicking those observed more common paediatric followed rapid psychomotor deterioration drug-resistant epilepsy. A prompt diagnosis essential to adopt...
Abstract Background In GM1 gangliosidosis the lack of function β‐galactosidase results in an accumulation ganglioside and related glycoconjugates visceral organs, particularly central nervous system, leading to severe disability premature death. type 2 form disease, early intervention would be important avoid precocious complications. To date, there are no effective therapeutic options preventing progressive neurological deterioration. Substrate reduction therapy with Miglustat, a...
In the pediatric population, knowledge of acute presentation SARS-CoV-2 infection is mainly limited to small series and case reports, particularly when dealing with neurological symptoms. We describe a large cohort children infection, focusing on manifestations investigating correlations between disease severity population demographics.
The role of MR Arterial-Spin-Labeling Cerebral Blood Flow maps (ASL-CBF) in the assessment pediatric focal epilepsy is still debated. We aim to compare Seizure Onset Zone (SOZ) detection rate three methods evaluation ASL-CBF: 1) qualitative visual (qCBF), 2) z-score voxel-based quantitative analysis index asymmetry (AI-CBF), and 3) cluster difference patient’s CBF from normative data an age-matched healthy population (cCBF). Interictal ASL-CBF were acquired 65 patients with epilepsy: 26...
Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation synaptic plasticity. De novo frameshift variants NOVA2, encoding neuron-specific key factor, have been recently associated with new neurodevelopmental disorder (NDD) hypotonia, neurological features, brain abnormalities. We investigated eight unrelated individuals by exome sequencing (ES) identified seven novel pathogenic NOVA2 variants, including two...