IRF2BPL

Gene product: Interferon regulatory factor 2 binding protein-like.

Protein function: It acts as a transcriptional activator and may also function as an E3 ubiquitin ligase[1].

Phenotype: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures[1-3].

Mutation database: ClinVar.

Clinical research: PubMed (PMID: 30057031 (Am J Hum Genet. 2018))

Medication reminder: There is currently no specific curative treatment; medication is primarily selected based on the specific Epilepsy Syndromes.

References:

1. Am J Hum Genet. 2018 Aug 2;103(2):245-260.
2. Epilepsia. 2023 Aug;64(8):e170-e176.
3. 牛茜,杨莹,牛雪阳,等.IRF2BPL基因变异相关的癫痫患儿临床表型特点[J].中华儿科杂志, 2021, 59(6):5.