Human Phenotype Ontology(HPO) Viewer

© 2024 CLIRINX
HPO Data Version: Oct 10th, 2021

Epilepsy/Seizures [HP:0001250]

Nervous System Physiology [HP:0012638]

Human Phenotype Ontology

Recent Publications

Pablo JLB, et al. 2024. Scanning mutagenesis of the voltage-gated sodium channel Na1.2 using base editing. Cell Rep (Jun 2024)

Vanoye CG, et al. 2024. Molecular and cellular context influences SCN8A variant function. JCI Insight (May 2024)

George AL. 2024. Late Sodium Current Promotes Ventricular Arrhythmia in Epilepsy-Related Sudden Death. JACC Clin Electrophysiol (May 2024)

Berg AT, et al. 2024. Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders. Brain (Aug 2024)

Kang SK, et al. 2024. Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant. Neurobiol Dis (May 2024)