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Article

Protective effect of CACNA1A deficiency in oligogenic refractory epilepsy with CACNA1A‐CELSR2 digenic mutations

4 Apr 2025

Abstract excerpt

OBJECTIVE: The vast majority of refractory epilepsy cases have a complex oligogenic/polygenic origin, which presents a challenge to precision medicine in individual patients. Nonetheless, the high workload and lack of effective guidelines have limited the number of in-depth animal studies. METHODS: Whole-exon sequencing identified a case with refractory epilepsy caused by a combination of two rare and de novo...

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PMID: 40184228
DOI: 10.1111/epi.18390

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