Abdallah F. Elias

TL;DR: GABRA1 mutations make a significant contribution to the genetic etiology of both benign and severe epilepsy syndromes, and myoclonic and tonic-clonic seizures with pathologic response to photic stimulation are common and shared features in both mild and severe phenotypes.

TL;DR: In this article, the authors used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome.

TL;DR: In this paper, a robust and reliable biochemical assay was developed to assess SLC35A2-dependent UDP-galactose transport activity in primary fibroblasts and showed that transport activity is directly correlated to the ratio of wild-type to mutant alleles in fibroblast from affected individuals.

TL;DR: SQOR deficiency represents a new, potentially treatable, cause of Leigh disease and can result in hydrogen sulfide accumulation, which, consistent with its known toxicity, inhibits complex IV resulting in energy failure.

TL;DR: Normal glycosylation studies together with clinical variability and genetic results complicate the diagnosis of SLC35A2‐CDG, but the data indicate that the combination of these three elements can support the pathogenicity of mutations in SLC 35A2.