NPRL2 related epilepsy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
NPRL2 related epilepsy. The NPRL2 gene is associated with enhanced mTORC1 signalling. Fully referenced neurology checklist.
Genetics
- The NPRL2 gene is associated with enhanced mTORC1 signalling
Phenotypes
Locked: subscribe to see this section.
Seizure types
Locked: subscribe to see this section.
Differential diagnosis
Locked: subscribe to see this section.
Magnetic resonance imaging (MRI) brain
Locked: subscribe to see this section.
Electroencephalogram (EEG)
Locked: subscribe to see this section.
Treatment
Locked: subscribe to see this section.
References
Locked: subscribe to see this section.
References
- Zhang H, Deng J, Gao Z, et al. Clinical phenotype and genotype of NPRL2-related epilepsy: four cases reports and literature review. Seizure 2023 (Online ahead of print).
- Zhang J, Shen Y, Yang Z, et al. A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review. J Hum Genet 2022; 67:79-85.
