Abstract
Neuroimaging in a 6-year-old girl with an unknown neurodegenerative disorder showed atrophy and bilateral thalamic T2/fluid-attenuated inversion recovery hyperintense signal intensity (figure). A mitochondrial or metabolic condition was suspected. Through a targeted gene panel, the patient was found to have a de novo KCNT1 mutation, a gene known to cause of a broad range of epileptic encephalopathies.1
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