Article

A zebrafish seizure model of <i>cblX</i> syndrome reveals a dose-dependent refractory response to mTor inhibition

2025-11-17

Abstract excerpt

Mutations in the transcriptional cofactor HCFC1 cause methylmalonic aciduria and homocystinemia, cblX type ( cblX ) (MIM#309541), non-syndromic X-linked intellectual disability (XLID), and focal epilepsy. Zebrafish studies have revealed increased activation of the Akt/mTor signaling pathway after mutation of hcfc1a , one ortholog of HCFC1 . mTOR hyperactivation is linked to seizures and its inhibition alleviate...

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Literature Corpus work: 4e03a249-5402-5efb-aa23-75ec61a395c6
DOI: 10.1101/2025.11.14.688058

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