A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures
Emma L. Veale(Medway School of Pharmacy), Alistair Mathie(University of Westminster), John M. Graham(Cedars-Sinai Medical Center), Alessia Golluscio(Medway School of Pharmacy), Katheryn Grand(Cedars-Sinai Medical Center)
Cited by 16
Related Papers
Guide to Receptors and Channels (GRAC), 5th edition
|British Journal of Pharmacology|2011|1.9k
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
|Nature Genetics|2012|752
THE CONCISE GUIDE TO PHARMACOLOGY 2019/20: G protein‐coupled receptors
|British Journal of Pharmacology|2019|712
Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
|American Journal of Medical Genetics|1989|583
Guide to Receptors and Channels (GRAC), 3rd edition
|British Journal of Pharmacology|2008|508