Issue 8/2015. This week’s review of the relevant publications in the field is about a novel risk factor for focal epilepsies, a gene involved in mRNA transport from the cell nucleus, and a small, confirmatory study on exome sequencing in Infantile Spasms.
Category Archives: papers of the week
Publications of the week: CDKL5, KIF1A, and familial cortical tremor
Issue 7/2015. I am realizing that we are a little behind with our weekly paper review and I hope that we can use the month of July to catch up. Our publications of the week include functional studies on CDKL5 targets that may suggest future therapy development, the recessive/de novo paradox of KIF1A and an attempt to understand the genetics of familial cortical tremor. Continue reading
Publications of the week: SCN8A, SYN1, ZDHHC9, and SCNM1
Power outage. This week’s publications of the week were conceptualized in complete darkness. A thunderstorm had hit the Philadelphia area on Tuesday, leading to widespread power outages in the region. I found myself in the strange position of being without power for a night, but with full strength cell phone reception and a completely charged laptop battery. Here is our post on the most relevant publications of the last few weeks, written in the calm of a dark night where the only sound around was the howling of our neighbor’s backup generator. Continue reading
Publications of the week – valproate toxicity, 15q11.2, and genetics of brain size
Issue 3/2015. This week our publications of the week are about the mechanism behind toxicity of the antiepileptic drug valproic acid in patients with POLG mutations, the phenotypic spectrum of the 15q11.2 microdeletion, and a new large-scale study on the genetics of brain size. Continue reading
Publications of the week – ATK3, TBC1D24, and BRAT1
Getting started in 2015. For the first issue of publications of the week this year, we have chosen a few case reports of genetic epilepsies, which expand the spectrum of known syndromes. All three publications highlight important features of rare genetic epilepsies that you might not have been aware of. Continue reading
Publications of the week – 15q13.3 deletions, POLG1 and liver failure, and twins
Update. In the last few weeks, we have tried to catch up with some recent publications in the field that mainly focused on autism spectrum disorder. This week’s publications, in contrast, cover a wide range of topics including the phenotypic spectrum of the 15q13.3 microdeletions, the importance of POLG1 in valproate-induced liver failure, and the most recent updates on epilepsy and twins. Continue reading
Publications of the week – PRICKLE1, Phelan-McDermid syndrome, and mitochondrial genetics
The week in review. It’s currently a bit quiet in the literature with respect to novel gene findings. However, there is plenty to explore about genes and variants we already know and their role in human epilepsy. This week’s selection of publications is about functional studies in a gene for progressive myoclonus epilepsy, the EEG signature in a microdeletion syndrome, and contribution of mitochondrial genetics in intractable epilepsy. Continue reading
Publications of the week: SLC13A5, SNAP25, and JME fMRI endophenotypes
Catching up. It has been a while since we posted a section on the recent publications in the field of epilepsy genetics. We are trying to catch up by briefly discussing three publications that appeared in the last two weeks. Here is what you should know about citrate transporters in epileptic encephalopathy, an STXBP1-interacting protein, and fMRI endophenotypes in Juvenile Myoclonic Epilepsy (JME). Continue reading
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
Publications of the week – GABRB3, SLC2A1, and SCN1A
No novel genes. This was actually a slow week with respect to publications in epilepsy genetics. No new gene was published, so we’ll focus on three publications that tell us bit more about three genes that we already know. This week’s publications cover new reports on GABRB3, SLC2A1, and SCN1A in brain malformations. Continue reading
