Whole‐exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo <i>GRIN2A</i> mutation

Abstract excerpt

We present a 4-year-old girl with profound global developmental delay and refractory epilepsy characterized by multiple seizure types (partial complex with secondary generalization, tonic, myoclonic, and atypical absence). Her seizure semiology did not fit within a specific epileptic syndrome. Despite a broad metabolic and genetic workup, a diagnosis was not forthcoming. Whole-exome sequencing with a trio...

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