Language Regression in an Atypical SLC6A1 Mutation

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 di...

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Published inSeminars in pediatric neurology Vol. 26; pp. 25 - 27
Main Authors Islam, Monica P., Herman, Gail E., de los Reyes, Emily C.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.07.2018
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Summary: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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ISSN:1071-9091
1558-0776
DOI:10.1016/j.spen.2018.04.001