Year: 2018
Type: article
Study design: Case Report
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
Source: Neurology
Authors: Ingo Helbig, Laura Adang
Institution: Children's Hospital of Philadelphia
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W2787535662