IQSEC2-Related Developmental and Epileptic Encephalopathy: Two Cases and Literature Review

A medical case report and literature review focusing on IQSEC2 gene variants associated with Rett-like developmental and epileptic encephalopathy. The document describes two brothers with a novel truncating variant and synthesizes findings from 38 published cases to explore genotype-phenotype correlations. It was authored by Li Cheng and last updated on May 14, 2026.

Use Cases

• Study genotype-phenotype correlations in IQSEC2-related disorders based on the review of 40 total cases.
• Analyze clinical manifestations like developmental delay and stereotypic hand movements based on the described case features.
• Investigate the distribution of missense versus truncating mutations within the IQSEC2 protein based on the described clustering patterns.
• Compare regression patterns in IQSEC2-related syndromes versus MECP2-related Rett syndrome based on the described hypothesis of developmental arrest.

Strengths

• Includes original data on two novel patient cases with a previously unreported IQSEC2 variant.
• Provides a synthesis of 38 published cases, offering a broader context for analysis.
• Explicitly discusses genotype-phenotype correlations, a key feature for clinical genetics.

Limitations

• The dataset is a 26.7 KB DOCX document; its primary data is embedded in prose, limiting direct computational analysis.
• Row count and column-level documentation are absent; data extraction requires manual review.
• The geographic origin of the case data is unspecified, which may limit generalizability.

Provenance

Source

figshare

Collection Method

Clinical case report combined with literature review.

Freshness

Last updated 2026-05-14 05:43:16