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KCNQ2 – Malignant migrating partial seizures of infancy

In a mutational scanning study of KCNQ2 and related ion channel genes in three unrelated children with typical features of Malignant migrating partial seizures of infancy, no pathogenic KCNQ2 variants were identified (PMID:16168594). Given the absence of KCNQ2 mutations, lack of segregation data, and no functional assays in this syndrome, there is currently insufficient evidence to implicate KCNQ2 in the etiology of malignant migrating partial seizures of infancy.

Key take-home: Current data do not support diagnostic testing of KCNQ2 for malignant migrating partial seizures of infancy.

References

  • Brain & development • 2006 • Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy. PMID:16168594

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

No pathogenic KCNQ2 variants identified in 3 unrelated MMPSI cases (PMID:16168594).

Genetic Evidence

Limited

Sequencing of KCNQ2 coding regions in three affected individuals revealed no candidate variants (PMID:16168594).

Functional Evidence

None

No experimental studies assessing KCNQ2 function in malignant migrating partial seizures of infancy.