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-Reference-Cited by-同舟云学术

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

Published:2020-02 Issue:2 Volume:42 Page:199-204
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

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

Funder

AMED

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference16 articles.

1. Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures;Petrovski;Am J Hum Genet,2016

2. G proteins control diverse pathways of transmembrane signaling;Freissmuth;FASEB J,1989

3. Heterotrimeric G protein activation by G-protein-coupled receptors;Oldham;Nat Rev Mol Cell Biol,2008

4. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans;Lohmann;Hum Mol Genet,2017

5. Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature;Hemati;Am J Med Genet A,2018

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity;Clinical Obesity;2024-04-10

2. GNB1 Encephalopathy: Clinical Case Report and Literature Review;Medicina;2024-04-01

3. Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy: A Systematic Review;Pediatric Neurology;2024-04

4. Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important;Frontiers in Pediatrics;2023-10-13

5. Epilepsy in a mouse model of GNB1 encephalopathy arises from altered potassium (GIRK) channel signaling and is alleviated by a GIRK inhibitor;Frontiers in Cellular Neuroscience;2023-05-18