Mispatterned motile cilia beating causes flow blockage in the epileptic brain
Faubel, R. J.; Feinstein, T. N.; Santos Canellas, V.; Gaesser, J.; Beluk, N. H.; Wang, Y.; Yankova, M.; King, S. M.; Karunakaran, K. B.; Ganapathiraju, M. K.; Lo, C. W.
Show abstract
Beating of motile cilia at the brain ventricular surface generates rapid flow in an evolutionary conserved pattern mediating the transport of cerebrospinal fluid, but its functional importance has yet to be demonstrated. Here we show disturbance of this transport may contribute to seizure susceptibility. Mice haploinsufficient for FoxJ1, transcription factor regulating motile cilia exhibited cilia-driven flow blockage and increased seizure susceptibility. Mutations in two epilepsy-associated kinases, Cdkl5 and Yes1, in mice resulted in similar cilia-driven flow blockage and increased seizure susceptibility. We showed this arises from disorganized cilia polarity associated with disruption in the highly organized basal body anchoring meshwork. Together these findings suggest mispatterning of cilia-generated flow may contribute to epilepsy and thus might account for seizures unresponsive to current seizure medications. One sentence summaryEpilepsy is associated with disturbance of cilia motion and mispatterning of fluid transport in the brain ventricles.
Matching journals
The top 4 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Dissociation of SYNGAP1 Enzymatic and Structural Roles: Intrinsic Excitability and Seizure Susceptibility 94%
- A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability 93%
- Preictal dysfunctions of inhibitory interneurons paradoxically lead to their rebound hyperactivity and to Low-Voltage-Fast onset seizures in Dravet syndrome. 93%
Similar papers in this journal
- Ric8 proteins as the neomorphic partners of G alpha o in GNAO1 encephalopathies 94%
- CEP162 deficiency causes human retinal degeneration and reveals a dual role inciliogenesis and neurogenesis 93%
- Ataxia-linked SLC1A3 mutations alter EAAT1 chloride channel activity and glial regulation of CNS function 92%
Similar papers in this journal
- Ectosome uptake by glia sculpts Caenorhabditis elegans cilia 93%
- Cerebellar nuclei cells produce distinct pathogenic spike signatures in mouse models of ataxia, dystonia, and tremor 93%
- Heterozygosity for neurodevelopmental disorder-associated TRIO variants yields distinct deficits in behavior, neuronal development, and synaptic transmission in mice. 93%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.