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Article
Clinical and functional consequences of GRIA variants in patients with neurological diseases
AMPA receptors are members of the glutamate receptor family and mediate a fast component of excitatory synaptic transmission at virtually all central synapses. Thus, their functional characteristics are a crit...
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Article
Open AccessImpaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
The structure of proline prevents it from adopting an optimal position for rapid protein synthesis. Poly-proline-tract (PPT) associated ribosomal stalling is resolved by highly conserved eIF5A, the only protei...
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Article
Open AccessInternational consensus recommendations on the diagnostic work-up for malformations of cortical development
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs place a substantial burden on affected individuals, the...
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Article
Open AccessPathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ...
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Article
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Eamonn Sheridan, Elizabeth Ross and colleagues report discovery of a new megalencephaly syndrome caused by de novo missense mutations in CCND2. They show that these mutations lead to stabilization of cyclin D2, a...
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Article
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
William Dobyns, Daniela Pilz and colleagues show that de novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome, a developmental disorder characterized by distinct craniofacial features,...
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Article
Genome-wide and fine-resolution association analysis of malaria in West Africa
Dominic Kwiatkowski and colleagues of the MalariaGEN and the WTCCC consortiums report a genome-wide analysis of severe malaria in The Gambia. They provide guidance for design of GWAS in African populations, an...
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Article
A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria susceptibility
The tumour necrosis factor (TNF) gene and other genes flanking it in the major histocompatibility complex (MHC) class III region are potentially important mediators of both immunity and pathogenesis of malaria...
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Article
Association of the GNAS locus with severe malaria
Functional studies have demonstrated an interaction between the stimulatory G protein alpha subunit (G-alpha-s) and the malaria parasite at a cellular level. Obstruction of signal transduction via the erythroc...
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Article
Whole genome–amplified DNA: insights and imputation
