Electrolytes. Sodium, calcium, and magnesium – I usually tell my students that imbalances in these serum electrolytes may result in seizures, when levels fall under a critical threshold. Amongst these imbalances, hypomagnesemia, a reduction of the serum magnesium level below 0.7 mmol/L, is a very rare cause of seizures, particularly in a pediatric population. However, there are genetic conditions that result in reduced magnesium levels and lead to neurological complications. In a recent paper in PLOS Genetics, the phenotype of CNNM2 mutation carriers is investigated – and magnesium is only the beginning of the story. Continue reading
Tag Archives: microcephaly
Publications of the week – 16p11.2 duplications, autism CNVs, and SETD1A
This week. This week’s publications in epilepsy genetics might be interesting for you, as they describe the first genetic risk factor for typical rolandic epilepsies, novel CNV studies in autism, and an unexpected de novo mutation in schizophrenia. Continue reading
Microcephaly, WDR62, and how to analyze recessive epilepsy families
Success rate. What is in an exome? There are lots of rare and unknown variants that are hard to make sense of unless we can ask a specific question or have further data to limit the number of genes that we look at. Genetic studies in recessive diseases with limited candidate genes to consider might represent one of the most straightforward cases. In a recent paper in BMC Neurology, the genetic cause of a recessive epilepsy/intellectual disability syndrome in a consanguineous family presenting with primary microcephaly was solved using a single exome of an affected individual. Was this just lucky or can this strategy be applied to any recessive family with a reasonable chance? Continue reading
