Topic: CA1 hippocampal pyramidal neurons

The image shows the morphology of pyramidal neuron filled with biocytin during the recording from mutant cell.This study focuses on understanding the pathophysiological mechanisms of KCNQ-DEE, a severe form of neonatal epilepsy associated with variants in genes of the KCNQ family. KCNQ genes encode subunits of KV7 voltage-gated potassium channels. Each channel is formed by four subunits and particularly heterotetrametric KV7.2/KV7.3 or KV7.5/KV7.3 channels, carrying the so-called M-current, play a crucial role in modulating neuronal excitability in the central nervous system. Most pathogenic v

De novo gain-of-function mutations in Cav1.3 voltage-gated L-type calcium channels (CACNA1D gene) confer a high risk for neurodevelopmental and neuropsychiatric diseases. However, how these mutations affect neuronal function remains elusive. Previously, we demonstrated that the autism-associated A749G mutation induced an overall dendritic spine elongation in transfected mouse hippocampal neurons. This study aimed to investigate the influence of A749G Cav1.3 channels on the dendritic branching, spine density, and neuronal soma size in the brains of heterozygous (HET) A749G knock-in mice. To do

Pathogenic variants in GABAA receptor subunits are a prominent cause of genetic epilepsies. Recent biophysical analysis of pathogenic GABRB3 variants reveals that both loss- and gain-of-function can cause epilepsy. Stratification shows that patients carrying gain-of-function variants experience an earlier onset of seizures that are refractory and have worse developmental delay compared to loss-of-function variant patients. This suggests that distinct pathological mechanisms underlie disease in each GABRB3 functional class. To date, research has only focused on loss-of-function variants. Here,