Abstract
Objective To identify the etiology of a novel, heritable encephalopathy in a small group of patients. Methods Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the causal gene mutations. Results Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T
Original language | English |
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Pages (from-to) | 649-658 |
Journal | Annals of Neurology |
Volume | 78 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2015 |