Publications by authors named "G G Colasante"
Recent advances in genetic testing technologies have revolutionised the identification of genetic abnormalities in early onset developmental and epileptic encephalopathies (DEEs). In this Review, we provide an update on the expanding landscape of genetic factors contributing to DEEs, encompassing over 800 reported genes. We focus on the cellular and molecular mechanisms driving epileptogenesis, with an emphasis on emerging therapeutic strategies and effective treatment options.
View Article and Find Full Text PDFDravet Syndrome (DS) is most often caused by heterozygous loss-of-function mutations in the voltage-gated sodium channel gene SCN1A (Na1.1), resulting in severe epilepsy and neurodevelopmental impairment thought to be cause by reduced interneuron excitability. However, recent studies in mouse models suggest that interneuron dysfunction alone does not completely explain all the cellular and network impairments seen in DS.
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- Emerging tick-borne illnesses like anaplasmosis, babesiosis, and ehrlichiosis are caused by intracellular pathogens and are typically diagnosed using methods with limitations, prompting a need for improved testing techniques.* -
- This study assessed a new direct real-time PCR test that detects the DNA of these pathogens directly from whole blood, showing high accuracy with a positive percent agreement (PPA) and negative percent agreement (NPA) of 100% for most comparisons.* -
- The findings indicate that this laboratory-developed test offers rapid and reliable identification of tick-borne infections, addressing both the growing prevalence of these illnesses and the shortage of skilled technicians for traditional testing methods.*
Dravet syndrome is a severe epileptic encephalopathy, characterized by drug-resistant epilepsy, severe cognitive and behavioural deficits, with increased risk of sudden unexpected death (SUDEP). It is caused by haploinsufficiency of SCN1A gene encoding for the α-subunit of the voltage-gated sodium channel Nav1.1.
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