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Childhood epilepsy with centrotemporal spikes, or Rolandic epilepsy (RE), is the most frequent form of IFE. Together with the Landau\u2010Kleffner syndrome and the epileptic Encephalopathy related to Status Epilepticus during slow Sleep syndrome (ESES), RE is part of a single and continuous spectrum of childhood epilepsies and epileptic encephalopathies with acquired cognitive, behavioral and speech and\/or language impairment, known as the epilepsy\u2010aphasia spectrum (EAS). The pathophysiology has long been attributed to an elusive and complex interplay between brain development and maturation processes on the one hand, and susceptibility genes on the other hand. Studies based on the variable combination of molecular cytogenetics, Sanger and next\u2010generation sequencing tools, and functional assays have led to the identification and validation of genetic mutations in the <jats:italic>GRIN2A<\/jats:italic> gene that can directly cause various types of EAS disorders. The recent identification of <jats:italic>GRIN2A<\/jats:italic> defects in EAS represents a first and major break\u2010through in our understanding of the underlying pathophysiological mechanisms. In this review, we describe the current knowledge on the genetic architecture of IFE.<\/jats:p>","DOI":"10.1684\/epd.2019.1056","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:08:53Z","timestamp":1710778133000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Update on the genetics of the epilepsy\u2010aphasia spectrum and role of <i>GRIN2A<\/i> mutations"],"prefix":"10.1002","volume":"21","author":[{"given":"Gaetan","family":"Lesca","sequence":"first","affiliation":[{"name":"Department of Genetics University Hospitals of Lyon, Member of the European Reference Network EpiCARE Lyon  France"},{"name":"Claude Bernard Lyon I University  Lyon France"},{"name":"Centre de Recherche en Neurosciences de Lyon, CNRS UMR5292, INSERM U1028  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rikke S.","family":"M\u2298ller","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Institute for Regional Health Services University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Rudolf","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle (FMTS)  Strasbourg France"},{"name":"IGBMC, CNRS UMR7104, INSERM U964 Strasbourg University  France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edouard","family":"Hirsch","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de M\u00e9decine Translationnelle (FMTS)  Strasbourg France"},{"name":"INSERM UMR_SU1119  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helle","family":"Hjalgrim","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Centre  Dianalund Denmark"},{"name":"Institute for Regional Health Services University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Szepetowski","sequence":"additional","affiliation":[{"name":"Aix\u2010Marseille University, INSERM UMR1249, INMED  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02522.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2006.05.009"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0034-x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2014.11.008"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2727"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182752c46"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70248-9"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13666"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2017.1714"},{"key":"e_1_2_8_12_1","unstructured":"DepienneC Gourfinkel\u2010AnI BaulacS LeGuernE.Genes in infantile epileptic encephalopathies. 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