C168598Level 6
Epilepsy, Focal, with Speech Disorder and with or without Intellectual Developmental Disorder
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutation(s) in the GRIN2A gene, encoding glutamate receptor ionotropic NMDA 2A. It is characterized by childhood-onset seizures affecting the temporal lobe or rolandic area of the brain, with a variable phenotype. It often affects speech and language.
**Synonyms:** - Aphasia, Acquired, with Epilepsy - Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation - FESD with or without Mental Retardation
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