Clinical variations of epileptic syndrome associated with PACS2 variant

Mizuno, T; Miyata, R; Hojo, A; Tamura, Y; Nakashima, M; Mizuguchi, T; Matsumoto, N; Kato, M

Mizuno, T (corresponding author), Tokyo Med & Dent Univ, Dept Pediat, Bunkyo Ku, 1-5-45 Yushima, Tokyo 1138519, Japan.

BRAIN & DEVELOPMENT, 2021; 43 (2): 343

Abstract

Background: Recent studies have suggested that two PACS2 pathogenic variants, c.625G > A (p.Glu209Lys) and c.631G > A (p. Glu211Lys), have been ......

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