Case Report: Recurrent Pathogenic Mutation c.110G>A in DHDDS Gene

A 96.3 KB PDF case report authored by Ci Liu, last updated in May 2026, details a female patient with a de novo heterozygous variant in the DHDDS gene. The report includes clinical manifestations, imaging features, treatment experiences, and genetic testing results, and references a retrospective analysis of 59 epilepsy patients with DHDDS variants. It provides references for the clinical diagnosis and treatment of related neurodevelopmental disorders.

Use Cases

• Study genotype-phenotype correlations based on the description of clinical heterogeneity in 59 epilepsy patients with DHDDS variants.
• Analyze treatment efficacy for movement disorders based on the described levetiracetam+clonazepam+haloperidol triple therapy.
• Investigate the association between DHDDS gene mutations and late-onset epilepsy based on the case description of seizure onset at age 17.

Strengths

• Report includes a detailed case description with specific patient age and treatment regimen.
• References a retrospective analysis of 59 patient cases to discuss clinical heterogeneity.
• Published under a permissive CC-BY-4.0 license for reuse.

Limitations

• Dataset scope is limited to a single case report and literature review; row count is unknown.
• Column-level documentation is absent; field semantics must be inferred from the PDF text.
• Data may reflect publication bias inherent to the case report format on figshare.

Provenance

Source

figshare

Collection Method

Clinical case report and literature review.

Freshness

Last updated 2026-05-11 05:28:14