PACS2 pathogenic variant associated with malformation of cortical development and epilepsy

Checri, R; Dozieres-Puyravel, B; Elmaleh-Berges, M; Verloes, A; Auvin, S

Auvin, S (通讯作者)，Robert Debre Univ Hosp, AP HP, Pediat Neurol Dept, CRMR epilepsies rares, Paris, France.

EPILEPTIC DISORDERS, 2023; ():

Abstract

PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, fac......

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