Vesna Marija van Midden Lisa Kinsley Avram Fraint Dimitri Krainc Niccolò E Mencacci
10.1111/cge.14226
Clin Genet
2023 Jan;103(1):103-108.
girk2 kcnj6 kcnj6-related disorders keppen-lubinsky syndrome case report startle response
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/36071510/
G Protein-Coupled Inwardly-Rectifying Potassium Channels Reflex, Startle / genetics
G Protein-Coupled Inwardly-Rectifying Potassium Channels Reflex, Startle / genetics Case Reports Research Support, Non-U.S. Gov't Humans KCNJ6 protein, human G Protein-Coupled Inwardly-Rectifying Potassium Channels
PMC10087234
36071510
Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses
2023