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Updated: Feb 8, 2026

Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting
Published on: June 6, 2020
Language Regression in an Atypical SLC6A1 Mutation
Monica P Islam1, Gail E Herman2, Emily C de Los Reyes1
1Department of Pediatrics and Neurology, Nationwide Children's Hospital, Columbus, OH; Ohio State University College of Medicine, Columbus, OH.
Abstract:
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 likelihood of identification of potential therapeutic targets.
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