Ercan Mihci

TL;DR: Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations in the ClCN7 gene, but only 7 of them had the expected two recessive mutations.

TL;DR: The data support the hypothesis that increased production of interleukin-1β in the central nervous system or increased diffusion of inter Leukin 1β through the blood-brain barrier is involved in the pathogenesis of febrile seizures.

TL;DR: Preliminary genotype‐phenotype correlations suggest that haploinsufficiency is not the mechanism causing ADO II, and the availability of biochemical assays to characterize ClC‐7 function will help to confirm this hypothesis.

TL;DR: CGL patients from Turkey had both previously reported and novel mutations of the AGPAT2, BSCL2, and PTRF genes, highlighting the early onset of severe metabolic abnormalities and increased risk of end-organ complications in patients with CGL.

TL;DR: It is proposed that haploinsufficiency for only 1 of the 12 genes in this region causes phenotypic abnormalities, and the JAG1‐associated critical region is defined, in which deletions do not confer findings other than those associated with AGS.