Publications by authors named "G Annesi"
Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.
Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.
Background: Febrile seizures (FSs) are the most common form of epilepsy in children aged between six months and five years. The exact cause is unknown, but several studies have demonstrated the importance of genetic predisposition, with increasing involvement of receptors and ion channels. The present study aims to identify novel pathogenic variants in Italian patients with FSs.
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- The study explores how copy number variations (CNVs) affect the development of Parkinson's disease (PD), aiming to identify new genetic mechanisms linked to sporadic cases of the disease.
- Utilizing data from over 11,000 PD patients and nearly 9,000 controls, the researchers discovered 14 significant CNV loci associated with PD, including various gene duplications and deletions.
- The research highlights a higher prevalence of CNVs in specific PD-related genes among patients and suggests that certain CNVs, especially those involving the gene, may lead to earlier onset of the disease in early-onset PD cases.
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- The study investigates the relationship between body mass index (BMI) and Parkinson's disease (PD) using a method called Mendelian randomization to determine if higher genetically predicted BMI is linked to a lower incidence of PD.
- Researchers analyzed genetic data from large groups of individuals, including over 800,000 for BMI and nearly 29,000 for PD, focusing on factors like age, disease duration, and gender to examine the associations.
- Results indicated an inverse relationship between genetically predicted BMI and PD, particularly among younger participants and women, suggesting that lower BMI may be associated with a higher risk of developing Parkinson's disease.
Doublecortin, encoded by the gene, plays a crucial role in the neuronal migration process during brain development. Pathogenic variants of the gene are the major causes of the "lissencephaly (LIS) spectrum", which comprehends a milder phenotype like Subcortical Band Heterotopia (SBH) in heterozygous female subjects. We performed targeted sequencing in three unrelated female cases with SBH.
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