GRIK1 and epilepsy: However, we have found a set of moderate-impact variants of genes classically associated with different types of epilepsy, such as Cacna1a, Zeb2 or Grik1. These genes, together with others with no known variants associated with some form of epilepsy to date either, including Grin2c, are involved in significantly enriched pathways directly related to neuronal excitability, such as the glutamatergic synapse pathway (Fig 8), and may therefore play a key role in the GASH/Sal phenotype.