Case presentation: Patient RSP, female, born full-term and without complications during pregnancy or perinatally. She presented her first episode of tonic-clonic at 5 months age, evolving with recurrent seizures variable frequency intensity, neuropsychomotor development (NPMD), tremors in the upper limbs precocious puberty. Brain MRI diffuse leukoencephalopathy associated volumetric reduction. ...

A comprehensive literature search was conducted to identify all case-control studies investigating the association between GRIN1 G1001C polymorphism and schizophrenia susceptibility (MIM: 138249; dbSNP: rs 11146020). A total of 6 eligible studies (including 1639 schizophrenia cases and 1489 controls) were identified for the meta-analysis. Including all studies, there was significant heterogenei...

The prokaryotic adaptive immune system CRISPR/Cas9 has recently been adapted for genome editing in eukaryotic cells. This technique allows for sequence-specific induction of double-strand breaks in genomic DNA of individual cells, effectively resulting in knock-out of targeted genes. It thus promises to be an ideal candidate for application in neuroscience where constitutive genetic modificatio...

Ack1 (activated Cdc42-associated tyrosine kinase) is a non-receptor tyrosine kinase that is highly expressed in brain. This kinase contains several protein-protein interaction domains and its action is partially regulated by phosphorylation. As a first step to address the neuronal functions of Ack1, here we screened mouse brain samples to identify proteins that interact with this kinase. Using ...

The RNA Pol II transcription complex pauses just downstream of the promoter in a significant fraction of human genes. The local features of genomic structure that contribute to pausing have not been defined. Here, we show that genes that pause are more G-rich within the region flanking the transcription start site (TSS) than RefSeq genes or non-paused genes. We show that enrichment of binding m...