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The spectrum of phenotypes includes the following: patients with some of the diagnostic criteria of Rett syndrome early onset seizure variant, patients characterized by severe encephalopathy with refractory seizures, patients with X-linked infantile spasms, and patients with autistic features (reduced social interaction with poor eye fixation and avoidance of eye contact and stereotypies) (137

L- : ( 90 140 100 )

Apr-Jun 2015;8(2):187-92

Zhang, X.-W

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doi: 10.1038/s41580-018-0092-0 15