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Article

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

Annals of neurology - 1 Apr 2018

Nakashima Mitsuko, Kato Mitsuhiro, Aoto Kazushi, Shiina Masaaki, Belal Hazrat, Mukaida Souichi, Kumada Satoko, Sato Atsushi, Zerem Ayelet, Lerman-Sagie Tally, Lev Dorit, Leong Huey Yin, Tsurusaki Yoshinori, Mizuguchi Takeshi, Miyatake Satoko, Miyake Noriko, Ogata Kazuhiro, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

OBJECTIVE: The cytoplasmic fragile X mental retardation 1 interacting proteins 2 (CYFIP2) is a component of the WASP-family verprolin-homologous protein (WAVE) regulatory complex, which is involved in actin dynamics. An obvious association of CYFIP2 variants with human neurological disorders has never been reported. Here, we identified de novo hotspot CYFIP2 variants in neurodevelopmental disorders and explore...

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Source

Identifiers

PMID: 29534297
DOI: 10.1002/ana.25208

Genes

CYFIP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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