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Semin Pediatr Neurol. 2018 Jul;26:25-27. doi: 10.1016/j.spen.2018.04.001.

Language Regression in an Atypical SLC6A1 Mutation.

Author information

1
Department of Pediatrics and Neurology, Nationwide Children's Hospital, Columbus, OH; Ohio State University College of Medicine, Columbus, OH.
2
Department of Pediatrics and Molecular & Human Genetics, Nationwide Children's Hospital, Columbus, OH; Ohio State University College of Medicine, Columbus, OH; The Research Institute at Nationwide Children's Hospital, Columbus, OH.
3
Department of Pediatrics and Neurology, Nationwide Children's Hospital, Columbus, OH; Ohio State University College of Medicine, Columbus, OH. Electronic address: delosReyes@nationwidechildrens.org.

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.

PMID:
29961511
DOI:
10.1016/j.spen.2018.04.001
[Indexed for MEDLINE]

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