Molecular mechanisms of epilepsy
K Staley - Nature neuroscience, 2015 - nature.com
Decades of experimental work have established an imbalance of excitation and inhibition as
the leading mechanism of the transition from normal brain function to seizure. In epilepsy …
the leading mechanism of the transition from normal brain function to seizure. In epilepsy …
RNA-binding proteins balance brain function in health and disease
R Schieweck, J Ninkovic… - Physiological reviews, 2021 - journals.physiology.org
Posttranscriptional gene expression including splicing, RNA transport, translation, and RNA
decay provides an important regulatory layer in many if not all molecular pathways …
decay provides an important regulatory layer in many if not all molecular pathways …
Identification of diverse astrocyte populations and their malignant analogs
Astrocytes are the most abundant cell type in the brain, where they perform a wide array of
functions, yet the nature of their cellular heterogeneity and how it oversees these diverse …
functions, yet the nature of their cellular heterogeneity and how it oversees these diverse …
VarCards: an integrated genetic and clinical database for coding variants in the human genome
J Li, L Shi, K Zhang, Y Zhang, S Hu, T Zhao… - Nucleic acids …, 2018 - academic.oup.com
A growing number of genomic tools and databases were developed to facilitate the
interpretation of genomic variants, particularly in coding regions. However, these tools are …
interpretation of genomic variants, particularly in coding regions. However, these tools are …
Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy
Objective Pathogenic variants of KCNQ 2, which encode a potassium channel subunit,
cause either benign (familial) neonatal epilepsy—B (F) NE)—or KCNQ 2 encephalopathy …
cause either benign (familial) neonatal epilepsy—B (F) NE)—or KCNQ 2 encephalopathy …
Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures
ASH1L, a histone methyltransferase, is identified as a top-ranking risk factor for autism
spectrum disorder (ASD), however, little is known about the biological mechanisms …
spectrum disorder (ASD), however, little is known about the biological mechanisms …
Pediatric epilepsy mechanisms: expanding the paradigm of excitation/inhibition imbalance
LR Shao, CW Habela, CE Stafstrom - Children, 2019 - mdpi.com
Mechanisms underlying seizures and epilepsy have traditionally been considered to involve
abnormalities of ion channels or synaptic function. Those considerations gave rise to the …
abnormalities of ion channels or synaptic function. Those considerations gave rise to the …
Genome-wide, integrative analysis of circular RNA dysregulation and the corresponding circular RNA-microRNA-mRNA regulatory axes in autism
YJ Chen, CY Chen, TL Mai, CF Chuang… - Genome …, 2020 - genome.cshlp.org
Circular RNAs (circRNAs), a class of long noncoding RNAs, are known to be enriched in
mammalian neural tissues. Although a wide range of dysregulation of gene expression in …
mammalian neural tissues. Although a wide range of dysregulation of gene expression in …
MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention
MYT1L is an autism spectrum disorder (ASD)-associated transcription factor that is
expressed in virtually all neurons throughout life. How MYT1L mutations cause neurological …
expressed in virtually all neurons throughout life. How MYT1L mutations cause neurological …
SoxB1 activity regulates sensory neuron regeneration, maintenance, and function in planarians
KG Ross, AM Molinaro, C Romero, B Dockter… - Developmental cell, 2018 - cell.com
SoxB1 genes play fundamental roles in neurodevelopmental processes and maintaining
stem cell multipotency, but little is known about their function in regeneration. We addressed …
stem cell multipotency, but little is known about their function in regeneration. We addressed …