Variant in the CHRNA2 gene has been reported in 1 proband with autosomal dominant benign familial infantile seizure since 2015 (Klassen et al.). One unique missense variant has been reported. There is no evidence of gene impact of the missense variant and the variant was also observed in general population database (gnomAD). The variant in this gene was identified by NGS panel testing and segregated with disease in 2 additional family members. In summary, there is no scored evidence to support the CHRNA2 and benign familial infantile seizure association. This classification was approved by the ClinGen Epilepsy Gene Curation Expert Panel by 1/7/2020. As of 11/9/2022, this record underwent administrative updates to change the obsolete MONDO disease term, benign familial neonatal-infantile seizures (MONDO:0011140), to benign familial epilepsy (MONDO:0017615). Additionally, the record's scoring has been updated to be consistent with SOP Version 9. No new evidence has been reviewed or added.
Original Lumping and Splitting comments, saved for historical reference: Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found differences in phenotypic variability between three disease entities: (1) Nocturnal frontal lobe epilepsy (MONDO:0000030), (2) Idiopathic epilepsy (MONDO:0005579) and (3) Benign familial infantile seizure (MONDO:0011140). Therefore, we have split curations for the disease entities, (1) Nocturnal frontal lobe epilepsy (MONDO:0000030), (2) Idiopathic epilepsy (MONDO:0005579) and (3) Benign familial infantile seizure (MONDO:0011140).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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