AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
作者： Marni J. Falk , Dong Li , Xiaowu Gai , Elizabeth McCormick , Emily Place
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摘要: Background: Whole exome sequencing (WES) offers a powerful diagnostic tool to rapidly and efficiently sequence all coding genes in individuals presenting for consideration of phenotypically genetically heterogeneous disorders such as suspected mitochondrial disease. Here, we report results WES functional validation consanguineous Indian kindred where two siblings presented with profound developmental delay, congenital hypotonia, refractory epilepsy, abnormal myelination, fluctuating basal ganglia changes, cerebral atrophy, reduced N-acetylaspartate (NAA).
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