Chronic Catatonia in an Individual With a De Novo Missense SHANK1 Variant.

Abstract excerpt

SHANK1 encodes a scaffolding protein of the SHANK family that includes SHANK1, SHANK2 and SHANK3. All of the SHANK proteins are enriched at the post-synaptic density of excitatory synapses. Here, we present an 11-year-old boy with a history of developmental delays and no family history of psychiatric disorders who developed catatonia. MRI of his brain and spine were negative as was a workup for autoimmune...

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