How the imaging investigation of EAST syndrome points towards the future of radiological multi-parametric phenotyping of a genetic disease.
Royal Manchester Children's Hospital, Academic Department of Paediatric Neuroradiology & The University of Manchester, UK.
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D002490:Central Nervous System / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000209:etiology*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000628:therapy*; D008279:Magnetic Resonance Imaging; D008297:Male; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis* / Q000628:therapy*; D000098854:Kcnj10 Channel
D000098854:Kcnj10 Channel; D024661:Potassium Channels, Inwardly Rectifying