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

science

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 encephalitis. The proband's genetic testing revealed a de novo heterozygous SHANK1 missense...

NCBI     Nov 21, 2024