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Article

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.

International journal of molecular sciences - 2 Mar 2024

Saez-Matia Alba, Ibarluzea Markel G, M-Alicante Sara, Muguruza-Montero Arantza, Nuñez Eider, Ramis Rafael, Ballesteros Oscar R, Lasa-Goicuria Diego, Fons Carmen, Gallego Mónica, Casis Oscar, Leonardo Aritz, Bergara Aitor, Villarroel Alvaro

Abstract excerpt

Despite the increasing availability of genomic data and enhanced data analysis procedures, predicting the severity of associated diseases remains elusive in the absence of clinical descriptors. To address this challenge, we have focused on the KV7.2 voltage-gated potassium channel gene (KCNQ2), known for its link to developmental delays and various epilepsies, including self-limited benign familial neonatal...

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Identifiers

PMID: 38474157
DOI: 10.3390/ijms25052910
PMCID: PMC10932340

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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