Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia-Reference-Cited by-同舟云学术

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

Published:2015-03 Issue:3 Volume:114 Page:467-473
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Nellist Mark,Schot Rachel,Hoogeveen-Westerveld Marianne,Neuteboom Rinze F.,van der Louw Elles J.T.M.,Lequin Maarten H.,Bindels-de Heus Karen,Sibbles Barbara J.,de Coo René,Brooks Alice,Mancini Grazia M.S.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

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3. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes;Riviere;Nat. Genet.,2012

4. De novo somatic mutations in components of the PI3K–AKT3–mTOR pathway cause hemimegalencephaly;Lee;Nat. Genet.,2012

5. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH;Nakamura;Clin. Genet.,2014

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1. Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report;American Journal of Medical Genetics Part A;2024-03-08

2. Experimental models of human cortical malformations: from mammals to 'acortical' zebrafish;Neuroscience & Biobehavioral Reviews;2023-12

3. An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia;Orphanet Journal of Rare Diseases;2023-11-16

4. The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth;Genes, Chromosomes and Cancer;2023-07-03

5. The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development;Genes & Diseases;2023-07