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Article

Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders.

Stem cell reports - 10 Feb 2026

Hommersom Marina P, Puvogel Sofía, Scheefhals Nicky, Carpentiero Eleonora, Bouma Marga, van Beusekom Ellen, Dillen Lieke, van de Warrenburg Bart P C, Nadif Kasri Nael, van Bokhoven Hans

Abstract excerpt

CACNA1A-related disorders constitute a diverse group of neurological conditions, including ataxia, migraine, and epilepsy. Despite extensive genetic studies, clear genotype-phenotype correlations remain elusive. Moreover, next-generation sequencing has identified many variants of uncertain significance (VUS). Here, we leveraged patient-derived and CRISPR-Cas9-engineered human neuronal networks to explore...

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Identifiers

PMID: 41576935
DOI: 10.1016/j.stemcr.2025.102783
PMCID: PMC12903092

Genes

CACNA1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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