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BC: Articoli scritti da S. Pozzessere

Echinocitosi associata a diminuita espressione della banda 3 eritrocitaria in un bambino con epilessia idiopatica
Echinocytosis and decreased expression of erythrocyte band 3 in a child with idiopathic epilepsy: a case report
<p>Echinocytosis (EC) is a morphologic change of the erythrocytes usually linked to electrolyte exchange abnormalities, energy depletion and cell dehydration. Herein, we report a case of a child presenting with complex partial epilepsy, consistent peripheral EC, mild unexplained microcitemia and a significantly decreased expression of band 3. No pathogenic mutations were found on the band 3 encoding gene, i.e., solute carrier family 4 (anion exchanger), member 1 (SLC4A1). The observed changes in band 3 expression likely originated at the transcriptional and/or post-transcriptional level. To date, band 3 is considered as a key protein in several neurodevelopmental diseases. The described modifications probably explain the observed clinical phenotype. The likelihood that an alteration in band 3 function could contribute to an erythrocyte morphological abnormality and neurological symptoms represents a fascinating and intriguing hypothesis.</p>
Biochimica Clinica ; 40(4) e27-e30
Casi clinici - Case report