SCN2A – Malignant Migrating Partial Seizures of Infancy

In a cohort of three unrelated infants with malignant migrating partial seizures of infancy, mutational analysis was performed on the coding regions and exon–intron boundaries of SCN2A along with KCNQ2, KCNQ3, SCN1A, and CLCN2. No pathogenic SCN2A variants were identified by PCR and direct sequencing, indicating a lack of genetic association (PMID:16168594).

These negative findings, combined with absence of functional studies linking SCN2A variants to this syndrome, constitute limited evidence for a causal role of SCN2A in MMPSI. Further genetic screening in larger cohorts and functional validation are required before considering SCN2A in diagnostic or therapeutic contexts.

Key Take-home: Current data do not support involvement of SCN2A in 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

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