Cav2.1. Among the various neurogenetic disorders that we follow in our clinic, CACNA1A-related disorders are somewhat unique. Even though these conditions have been known for several decades, our understanding has remained fragmented, and the functional effect of most missense variants is still not well understood. In a recent study, we contributed to a comprehensive functional assessment of 42 missense variants in CACNA1A, approaching the problem in a structured, top-down manner. Here are the main findings from our study.
Category Archives: CACNA1A
Different genes, convergent processes – rare disease lessons from neurogenesis
A paradox in the hippocampus. Immature dentate granule cells are often described as the “plasticity reserve” of the hippocampus. They provide a pool of neurons that integrate into existing circuits, supporting learning, memory, and repair. In neurological disease, these cells have been suggested to buffer against injury or degeneration. In a recent publication, researchers showed that the hippocampus continues to generate new neurons throughout life, but that the molecular instructions for doing so vary dramatically across species. The surprising finding is this: the processes of neurogenesis are conserved, while the genes underlying these processes are often completely different. This is an important reminder that biology often converges at the level of function, even when the building blocks are not the same.
CACNA1A-related hemiplegic migraine—the big unknown
FHM. There are few neurological phenomena that are as perplexing as CACNA1A-related hemiplegic migraines. Neither migraines, seizures, nor strokes, CACNA1A-related hemiplegic migraines are poorly characterized neurological events that often defy explanation. In a recent publication, we characterized how hemiplegic migraines in children with CACNA1A-related disorders present across time. Here is what we found.
CACNA1A – five things to know in 2022
Epilepsy genes. It has admittedly been quiet around the gene pages on our blog and many pages require an update. When we initially launched the Epilepsiome pages, we wanted to create a small resource for gene-based information according to the “what you need to know” principle, a condensed digest regarding epilepsy genes written by clinicians and researchers with deep expertise in the field. We chose CACNA1A as the first gene to get an update. The reason for this is the following: Laina has taken on the role of modernizing this blog and CACNA1A is the main condition that she is working on. Here are five things to know in 2022 about CACNA1A. Continue reading
CACNA1A – this is what you need to know in 2015
P/Q. This week’s gene of the week is an atypical epilepsy gene, which is the main reason that this post is only coming out on Friday rather than Monday. Even though I was initially highly motivated to put something together on CACNA1A, I soon discovered that this gene is overwhelming. CACNA1A is a gene for both a channelopathy and trinucleotide repeat disorder, a gene for early childhood-onset and late onset adult neurological disorders, and a gene responsible for both episodic neurological conditions and neurodegenerative diseases. I have tried to put this into a coherent format. Here is what you need to know about CACNA1A in 2015. Continue reading