This discovery could one day improve outcomes in children with #epilepsy and related #neurodevelopmentalDisorders. J Noebels, S. Thompson, Q-L Miao et al. @bcmhouston.bsky.social #bcmneurology #Neuron @cellpress.bsky.social #calciumChannel blogs.bcm.edu/2026/04/03/f...
We uncover an unexpected synergy between RNA editing & alternative splicing in the CaV1.3 calcium channel. This mechanism fine-tunes neuronal Ca²⁺ entry & may protect against excitotoxicity.
#IonChannels #CalciumChannel #CACNA1D #ExcitoToxicity
Screenshot of Figure 3: Genotype-phenotype correlations for Cav3.1 variants. A. Radar plots illustrating the distribution of the clinical features of the representative phenotypes in the 32 patients (new and previously reported) examined in this study (upper panel), in the 13 patients carrying the p.(Ala961Thr) variant (lower-left panel), and in the 6 patients carrying the p.(Met1531Val) variant (lower-right panel). Note that the cerebellar phenotype (motor delay, cerebellar atrophy, and ataxia) found in all p.(Ala961Thr) and p.(Met1531Val) patients was not retrieved consistently in patients carrying the other variants. Note also that one major difference is the near-complete absence of seizure phenotype in p.(Ala961Thr) patients (1 of 13), compared with p.(Met1531Val) patients (6 of 6).
Beyond #spinocerebellar ataxia phenotypic expansion of #pathogenic variants in #CACNA1G bit.ly/3CA6zWu #cerebellum #neurodevelopment #calciumchannel
#CalciumChannel subunits play a major role in autistic disorders: Fine-tuning of calcium channel subunits is essential for ensuring a physiological balance between inhibitory and excitatory nerve cells www.uni-mainz.de/presse/aktuell/11867_ENG... #autism...
