Global cerebral hypomyelination

Definition:

Global cerebral hypomyelination is a syndrome characterized by arrested psychomotor development, hypotonia, and seizures. A missense mutation in the SLC25A12, which encodes the AGC1 protein, causes this syndrome. AGC1 is thought to be important in providing energy for neurons in the central nervous system.

References:

[1]. Rolf Wibom, et al. AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med. 2009 Jul 30;361(5):489-95. [Content Brief]

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