Article
Language Regression in an Atypical SLC6A1 Mutation.
Seminars in pediatric neurology - 1 Jul 2018
Islam Monica P, Herman Gail E, de Los Reyes Emily C
Abstract excerpt
Recent technological advances in exome sequencing or targeted gene sequencing with epilepsy panels have allowed clinicians to better understand the pathogenesis and clinical presentation of children with epilepsy. We present a child with a SLC6A1 mutation with language delay and autistic spectrum disorder and remind the reader that the identification of specific mutations in these conditions increase the...
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