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Article

Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2020

Ferranti Silvia, Lo Rizzo Caterina, Renieri Alessandra, Galluzzi Paolo, Grosso Salvatore

Abstract excerpt

INTRODUCTION: Berardinelli-Seip syndrome or congenital generalized lipodystrophy type 2 is a rare genetic disorder characterized by selective loss of subcutaneous adipose tissue associated with peripheral insulin resistance and its complications. Nonprogressive mental retardation, dystonia, ataxia, and pyramidal signs are commonly present, whereas epilepsy has only occasionally been observed. CASE REPORT: We...

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PMID: 32440981
DOI: 10.1007/s10072-020-04418-1

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