Investigation of FRMPD4 variants associated with X-linked epilepsy
Seizure: European Journal of Epilepsy（2023）
摘要
•This study reports five novel missense variants of FRMPD4 in patients with epilepsy.•This study demonstrates that FRMPD4 gene is potentially a candidate pathogenic gene of epilepsy.•This study suggests a quantitative correlation between FRMPD4 impairment and phenotypic variation.
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关键词
FRMPD4,Epilepsy,Whole-exome sequencing,MRX104
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