CHRNA2 – Benign familial infantile seizures

CHRNA2 variants have been implicated mainly in nocturnal frontal lobe epilepsy, but evidence for benign familial infantile seizures (BFIS) remains preliminary. A single‐family report described a heterozygous missense variant c.1126C>T (p.Arg376Trp) segregating with BFIS in three daughters, with seizure onset between 6 and 24 months, clustered episodes, effective seizure control, and favorable outcomes (PMID:25847220).

Inheritance is autosomal dominant with segregation evidence limited to one pedigree. The variant is predicted deleterious in silico without functional validation in cellular or animal models. No additional unrelated cases have been reported to date. Further functional assays and identification of independent families will be necessary to establish definitive causality. Key take-home: CHRNA2 mutation screening may be considered in familial infantile seizure presentations, but current evidence is limited.

References

• Epilepsia • 2015 • Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy. PMID:25847220
• CHRNA2
• Benign familial infantile seizures

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