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Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
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Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
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Responsible Editor
Giuseppe Agosta

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Chiara Riva
Biomedia srl
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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091

BC: Articoli scritti da S. Buoni

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