Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.

doi:10.1016/j.braindev.2019.10.006

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Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.

Brain & development - 1 Feb 2020

Endo Wakaba, Ikemoto Satoru, Togashi Noriko, Miyabayashi Takuya, Nakajima Erika, Hamano Shin-Ichiro, Shibuya Moriei, Sato Ryo, Takezawa Yusuke, Okubo Yukimune, Inui Takehiko, Kato Mitsuhiro, Sengoku Toru, Ogata Kazuhiro, Hamanaka Kohei, Mizuguchi Takeshi, Miyatake Satoko, Nakashima Mitsuko, Matsumoto Naomichi, Haginoya Kazuhiro

Abstract excerpt

We report the first three Japanese patients with missense variants in the GNB1 gene. Patients exhibited severe dyskinetic quadriplegia with cortical blindness and epileptic spasms, West syndrome (but with good outcomes), and hypotonic quadriplegia that later developed into spastic diplegia. Whole-exome sequencing revealed two recurrent GNB1 variants (p.Leu95Pro and p.Ile80Thr) and one novel variant (p.Ser74Leu)....

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PMID: 31735425
DOI: 10.1016/j.braindev.2019.10.006

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

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