Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Seok Kyu KangCarlos G VanoyeSunita N MisraDennis M EchevarriaJeffrey D CalhounJohn B O'ConnorKatarina L FabreDianalee McKnightLaurie DemmerPaula GoldenbergLauren E GroteIsabelle ThiffaultCarol SaundersKevin A StraussAli TorkamaniJasper van der SmagtKoen van GassenRobert P CarsonJullianne DiazEyby LeonJoseph E JacherMark C HannibalJessica LitwinNeil R FriedmanAllison SchreiberBryan LynchAnnapurna PoduriEric D MarshEthan M GoldbergJohn J MillichapAlfred L GeorgeJennifer A KearneyPublished in: Annals of neurology (2019)
Our study establishes a platform for rapid screening of KV 2.1 functional defects caused by KCNB1 variants associated with DEE and other NDDs. This will aid in establishing KCNB1 variant pathogenicity and the mechanism of dysfunction, which will enable targeted strategies for therapeutic intervention based on molecular phenotype. ANN NEUROL 2019;86:899-912.
Keyphrases
- oxidative stress
- randomized controlled trial
- image quality
- copy number
- high throughput
- cancer therapy
- dual energy
- gene expression
- magnetic resonance imaging
- computed tomography
- escherichia coli
- dna methylation
- magnetic resonance
- single molecule
- congenital heart disease
- biofilm formation
- single cell
- loop mediated isothermal amplification
- candida albicans