Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.
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| http://dx.doi.org/10.1016/j.braindev.2011.03.010 | DOI Listing |
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Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.
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