New genes for focal epilepsies with speech and language disorders.
The last 2 years have seen exciting advances in the genetics of Landau-Kleffner syndrome and related disorders, encompassed within the epilepsy-aphasia spectrum (EAS). The striking finding of mutations in the N-methyl-D-aspartate (NMDA) receptor subunit gene GRIN2A as the first monogenic cause in up to 20% of patients with EAS suggests that excitatory glutamate receptors play a key role in these disorders. Patients with GRIN2A mutations have a recognizable speech and language phenotype that may assist with diagnosis. Other molecules involved in RNA binding and cell adhesion have been implicated in EAS; copy number variations are also found. The emerging picture highlights the overlap between the genetic determinants of EAS with speech and language disorders, intellectual disability, autism spectrum disorders and more complex developmental phenotypes.
Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Australia, s.turner4@student.unimelb.edu.au.
Samantha J
SJ
Turner
Angela T
AT
Morgan
Eliane Roulet
ER
Perez
Ingrid E
IE
Scheffer
D034961:Antigens, Nuclear / Q000235:genetics; D056915:DNA Copy Number Variations; D004828:Epilepsies, Partial / Q000235:genetics*; D006801:Humans; D007806:Language Disorders / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000235:genetics; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics; D013060:Speech
D034961:Antigens, Nuclear; D009419:Nerve Tissue Proteins; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins; D016194:Receptors, N-Methyl-D-Aspartate; C455479:RBFOX1 protein, human; C506808:neuronal nuclear antigen NeuN, human