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Article

Clinical variations of epileptic syndrome associated with PACS2 variant.

Brain & development - 1 Feb 2021

Mizuno Tomoko, Miyata Rie, Hojo Akira, Tamura Yumie, Nakashima Mitsuko, Mizuguchi Takeshi, Matsumoto Naomichi, Kato Mitsuhiro

Abstract excerpt

BACKGROUND: Recent studies have suggested that two PACS2 pathogenic variants, c.625G > A (p.Glu209Lys) and c.631G > A (p.Glu211Lys), have been causally linked to the characteristic developmental and epileptic encephalopathy, including autistic behaviors, hypotonia, cerebellar dysgenesis and facial dysmorphism. Their seizures appear most difficult to control in neonatal and infant period, but improve after the...

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Identifiers

PMID: 33243487
DOI: 10.1016/j.braindev.2020.10.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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