Article
Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid Syndrome.
Epilepsy & behavior : E&B - 1 Mar 2018
Khan Omar I, Zhou Xiangping, Leon Jill, Kessler Riley, Gaughan Thomas, D'Souza Precilla, Gropman Andrea, Cohen Ninette, Rennert Owen, Buckley Ashura, Inati Sara, Thurm Audrey
Abstract excerpt
OBJECTIVE: Phelan-McDermid Syndrome (PMS) is a rare genetic condition associated with loss of function mutations, including deletions, in the chromosome 22q13 region. This PMS phenotype includes intellectual disability, often minimal to absent verbal skills, and other neurologic features including autism spectrum disorder and seizures. Reports indicate seizures and abnormal electroencephalograms (EEGs) in this...
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