Publications by authors named "S Meneghini"

Mutant subunits of the neuronal nicotinic ACh receptor (nAChR) can cause Autosomal Dominant Sleep-related Hypermotor Epilepsy (ADSHE), characterized by frontal seizures during non-rapid eye movement (NREM) sleep. We studied the cellular bases of the pathogenesis in brain slices from mice conditionally expressing the ADSHE-linked β2 nAChR subunit. β2 mice displayed minor structural alterations, except for a ~10% decrease of prefrontal cortex thickness.

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We report the case of a patient who presented after a motorcycle accident a grade IV kidney lesion primarily treated with a NOM, which failed. We discuss the possibility at admission to select a subgroup of patients with a high grade (IV and V) kidney trauma in whom NOM might fail. KEY WORDS: Kidney Trauma, High grade renal trauma, Non operative management.

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Spontaneous liver hemorrhage (SLH) is a serious, extremely rare, and life-threatening occurrence requiring a multidisciplinary approach. Since diagnosis might be difficult, a high mortality rate is reported. Survival depends on a prompt diagnosis followed by an appropriate management.

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The hippocampus is a brain area central for cognition. Mutations in the human SOX2 transcription factor cause neurodevelopmental defects, leading to intellectual disability and seizures, together with hippocampal dysplasia. We generated an allelic series of Sox2 conditional mutations in mouse, deleting Sox2 at different developmental stages.

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Sleep-related hypermotor epilepsy (SHE) is characterized by hyperkinetic focal seizures, mainly arising in the neocortex during non-rapid eye movements (NREM) sleep. The familial form is autosomal dominant SHE (ADSHE), which can be caused by mutations in genes encoding subunits of the neuronal nicotinic acetylcholine receptor (nAChR), Na-gated K channels, as well as non-channel signaling proteins, such as components of the gap activity toward rags 1 (GATOR1) macromolecular complex. The causative genes may have different roles in developing and mature brains.

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