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Article

Clinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review.

Seizure - 1 Mar 2024

Zhang Hongwei, Deng Jie, Gao Zaifen, Wang Yaping, Zhao Fen, Zhao Hongyang, Fang Fang

Abstract excerpt

BACKGROUND: NPRL2-related epilepsy, caused by pathogenic germline variants of the NPRL2 gene, is a newly discovered childhood epilepsy linked to enhanced mTORC1 signalling. However, the phenotype and genotype of NPRL2 variants are still poorly understood. Here, we summarize the association between the phenotype and genotype of NPRL2-related epilepsy. METHODS: A retrospective analysis was conducted for four...

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PMID: 37741786
DOI: 10.1016/j.seizure.2023.09.003

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