Language Regression in an Atypical SLC6A1 Mutation

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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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Case Report

A 3-year-old girl presented for evaluation of delayed language, repetitive behavior, and limited social reciprocity. She was diagnosed with an autism spectrum disorder at 3 years of age based on a comprehensive diagnostic evaluation that included psychological testing, including an autism diagnostic observation schedule. During her initial evaluation, the family reported that she had a functional language of 50 single words. Her initial preschool language scale had a total language score of 78

Magnetic Resonance Imaging of the Head Was Normal

An electroencephalogram (EEG) was obtained to rule out electrical status of sleep as a possible explanation of the language regression.

This child’s initial EEG at age 3 years demonstrated a disorganized, high-amplitude, and slow background, 3-5 Hertz (Hz) with poorly characterized sleep elements; activity in sleep occasionally exceeded 350 µv in amplitude on review in an average montage. Multifocal sharp discharges, predominantly left-sided, and polyspike discharges were present and activated

Discussion

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. This has allowed clinicians to tailor therapeutic interventions such as that seen in SCNA genetic mutations.1 Because of the expansion of knowledge, clinicians are also able to discuss prognosis and outcome in children with specific types of epilepsy.

Mutations in the SLC6A1 gene have

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