Article
Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports.
BMC psychiatry - 7 May 2015
Serret Sylvie, Thümmler Susanne, Dor Emmanuelle, Vesperini Stephanie, Santos Andreia, Askenazy Florence
Abstract excerpt
BACKGROUND: Phelan-Mc Dermid syndrome is a contiguous disorder resulting from 22q13.3 deletion implicating the SHANK3 gene. The typical phenotype includes neonatal hypotonia, moderate to severe intellectual disability, absent or delayed speech, minor dysmorphic features and autism or autistic-like behaviour. Recently, point mutations or micro-deletions of the SHANK3 gene have been identified, accompanied by a...
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