We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
The long and winding road to personalized medicine in KCNMA1‐linked channelopathies revealed by novel variants associated with the Liang‐Wang syndrome.
- Authors
Soldovieri, Maria Virginia; Taglialatela, Maurizio
- Abstract
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. The long and winding road to personalized medicine in KCNMA1-linked channelopathies revealed by novel variants associated with the Liang-Wang syndrome In conclusion, the observations reported in this manuscript confirm the variable but overlapping clinical phenotypes associated with GoF and LoF variants responsible for KCNMA1-linked channelopathies, thus providing a prime example of the long and winding road still lying ahead before it will be possible to translate genetic diagnostic accuracy in genotype-phenotype correlations which may facilitate patient stratification and precision medicine approaches.
- Subjects
MOVEMENT disorders; INDIVIDUALIZED medicine; SYNDROMES; CALCIUM-dependent potassium channels; HEREDITY; GENETIC variation
- Publication
Acta Physiologica, 2022, Vol 235, Issue 4, p1
- ISSN
1748-1708
- Publication type
Article
- DOI
10.1111/apha.13854