Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Saskia B WortmannRene G FeichtingerLucia AbelaLoes Annet van GemertMélodie AubartClaire-Marine Dufeu-BeratNathalie BoddaertRene de CooLara StühnJasmijn HebbinkWolfram HeinritzJulia HildebrandtNastassja HimmelreichChristoph KorenkeAnna LehmanThomas LeylandChristine MakowskiRafael Jenaro Martinez MarinPauline MarzinChris MühlhausenMarlène RioAgnes RotigCharles-Joris RouxManuel SchiffTobias B HaackSteffen SyrbeStas A ZyliczChristian ThielMaria Veiga da CunhaEmile van SchaftingenMatias WagnerJohannes Adalbert MayrRon A WeversEugen BoltshauserMichel A A P WillemsenPublished in: Neurology. Genetics (2024)
variants causing an NDD. This can help in variant interpretation and may aid in understanding the pathomechanism. We hypothesize that progressive intoxication and/or ongoing energy deficiency lead to the clinical phenotypes and progressive neuroimaging findings.