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Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.

Gemma Louise CarvillSandra JansenAmy LacroixMatthew ZemelMichele MehaffeyPetra De VriesHan G BrunnerIngrid Eileen SchefferBert B A De VriesLisenka E L M VissersHeather C Mefford
Published in: Developmental medicine and child neurology (2021)
We identified seven genes that are more likely to cause epilepsy and intellectual disability than intellectual disability only. Conversely, two genes, GRIN2B and SCN2A, can be implicated in intellectual disability without epilepsy; in these instances intellectual disability is not a secondary consequence of ongoing seizures but rather a primary cause. What this paper adds A subset of genes are more commonly implicated in epilepsy than other neurodevelopmental disorders. GRIN2B and SCN2A are implicated in intellectual disability and epilepsy independently.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • genome wide
  • bioinformatics analysis
  • genome wide identification
  • gene expression
  • transcription factor