ELFN1 Deficiency: Clinical and Molecular Data for a Neurodevelopmental Disorder

Clinical and molecular data from 14 individuals across 8 families, published in 2026, supporting research into ELFN1 deficiency. The dataset includes clinical features, genetic variants, and results from functional modeling in mice and zebrafish. It was authored by Kirill Martemyanov and is available under a CC-BY-4.0 license.

Use Cases

• Correlating specific ELFN1 genetic variants with clinical phenotypes based on reported developmental delay, epilepsy, and movement disorders.
• Modeling protein trafficking dysfunction based on molecular investigation results described in the dataset.
• Validating animal models of seizures and motor abnormalities using functional data from mice and zebrafish experiments.

Strengths

• Includes data from 14 individuals, integrating 8 newly identified and 6 previously reported cases.
• Contains results from functional modeling in two different animal models (mice and zebrafish).
• Dataset size is 4.2 GB, indicating a medium-scale collection of raw research files.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare, authored by Kirill Martemyanov.

Collection Method

Clinical case descriptions and molecular investigations from 5 unrelated families, integrated with 6 previously reported cases.

Freshness

Last updated 2026-04-12 17:16:32; freshness should be verified.