Publications by authors named "Maria Giardino"
Article Synopsis
- Childhood Onset Schizophrenia is a rare mental health issue seen in kids, and it can sometimes be linked to a genetic condition called 22q11.2 Deletion Syndrome.
- The case focuses on a boy who had difficulties with communication, learning, and social skills from a young age, which later developed into Childhood Onset Schizophrenia.
- The report highlights the need to check for 22q11.2 Deletion Syndrome in kids with this type of schizophrenia, especially if they have unusual brain features like Hippocampal Malrotation.
In recent years, precision medicine has emerged as a new paradigm for improved and more individualized patient care. Its key objective is to provide the right treatment, to the right patient at the right time, by basing medical decisions on individual characteristics, including specific genetic biomarkers. In order to realize this objective researchers and physicians must first identify the underlying genetic cause; over the last 10 years, advances in genetics have made this possible for several monogenic epilepsies.
View Article and Find Full Text PDFHyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN channels have been reported so far. In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. To delineate HCN1-related disorders and investigate genotype-phenotype correlations further, we assembled a cohort of 33 unpublished patients with novel pathogenic or likely pathogenic variants: 19 probands carrying 14 different de novo mutations and four families with dominantly inherited variants segregating with epilepsy in 14 individuals, but not penetrant in six additional individuals.
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