Author:
Marcé-Grau Anna,Dalton James,López-Pisón Javier,García-Jiménez María Concepción,Monge-Galindo Lorena,Cuenca-León Ester,Giraldo Jesús,Macaya Alfons
Funder
Instituto de Salud Carlos III
Ministerio de Economía y Competitividad
Agència de Gestió d’Ajuts Universitaris i de Recerca
Fundació-Institut de Recerca Vall d'Hebron
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Reference29 articles.
1. Dulac O. Epileptic encephalopathy. Epilepsia. 2001;42 Suppl 3:23–6.
2. Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, et al. De novo mutations in GNAO1, encoding a G-alpha-o subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet. 2013;93:496–505.
3. EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet. 2014;95:360–70.
4. Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, et al. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. Eur J Hum Genet. 2016;24:129–34.
5. Talvik I, Moller R, Vaher M, Vaher U, Larsen LHG, Dahl H, et al. Clinical phenotype of De novo GNAO1 mutation: case report and review of literature. Child Neurology Open. 2015. doi: 10.1177/2329048X15583717 .
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