Bali B, Kull LL, Strug LJ, Clarke T, Murphy PL, Akman CI, Greenberg DA, Pal DK (2007) Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families. Epilepsia 48:2266–2272
Article PubMed PubMed Central Google Scholar
Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, Ronen GM, Altmüller J, Lal D, Nürnberg P, Sander T, Thiele H, Krause R, May P, Balling R, Lerche H, Neubauer BA (2018) Exome-wide analysis of mutational burden in patients with typical and atypical rolandic epilepsy. Eur J Hum Genet 26:258–264. https://doi.org/10.1038/s41431-017-0034-x
Article CAS PubMed PubMed Central Google Scholar
Boßelmann C, Borggräfe I, Fazeli W, Klein K‑M, Kluger GJ, Müller-Schlüter K, Neubauer BA, von Spiczak S, Steinbeis von Stülpnagel C, Weber Y, Lemke JR, Wolking S, Krey I (2023) Genetische Diagnostik der Epilepsien: Empfehlung der Kommission Epilepsie und Genetik der Deutschen Gesellschaft für Epileptologie (DGfE). Clin Epileptol 36:224–237. https://doi.org/10.1007/s10309-023-00580-6
Bray PF, Wiser WC (1965) Hereditary characteristics of familial temporal-central focal epilepsy. Pediatrics 36:207–211
Article CAS PubMed Google Scholar
Carvill GL, Regan BM, Yendle SC, O’Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC (2013) GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 45:1073–1076
Article CAS PubMed PubMed Central Google Scholar
DeVries SP, Patel AD (2014) Two patients with a GRIN2A mutation and childhood-onset epilepsy. Pediatr Neurol 49:482–485
Dimassi S, Labalme A, Lesca G, Rudolf G, Bruneau N, Hirsch E, Arzimanoglou A, Motte J, de Martin Saint A, Boutry-Kryza N, Cloarec R, Benitto A, Ameil A, Edery P, Ryvlin P, De Bellescize J, Szepetowski P, Sanlaville D (2014) A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. Epilepsia 55:370–378
Article CAS PubMed Google Scholar
Doose H, Neubauer BA, Petersen B (2000) The concept of hereditary impairment of brain maturation. Epileptic Disord Int Epilepsy J Videotape 2(1):S45–S49
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K (2010) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42:1021–1026
Article CAS PubMed Google Scholar
Hu X, Tang J, Hua Y, Wang Y, Huang J (2021) Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy. Epileptic Disord Int Epilepsy J Videotape 23:623–632. https://doi.org/10.1684/epd.2021.1308
Jabbari K, Bobbili DR, Lal D, Reinthaler EM, Schubert J, Wolking S, Sinha V, Motameny S, Thiele H, Kawalia A, Altmüller J, Toliat MR, Kraaij R, van Rooij J, Uitterlinden AG, Ikram MA, Zara F, Lehesjoki A‑E, Krause R, Zimprich F, Sander T, Neubauer BA, May P, Lerche H, Nürnberg P (2018) Rare gene deletions in genetic generalized and rolandic epilepsies. PLoS ONE 13:e202022. https://doi.org/10.1371/journal.pone.0202022
Article CAS PubMed PubMed Central Google Scholar
Krey I, Platzer K, Lemke JR (2022) Monogenetic epilepsies and how to approach them in 2022. Med Genet 34:201–205. https://doi.org/10.1515/medgen-2022-2143
Article PubMed PubMed Central Google Scholar
Krey I, von Spiczak S, Johannesen KM, Hikel C, Kurlemann G, Muhle H, Beysen D, Dietel T, Møller RS, Lemke JR, Syrbe S (2022) L‑Serine treatment is associated with improvements in behavior, EEG, and seizure frequency in individuals with GRIN-related disorders due to null variants. Neurother J Am Soc Exp Neurother 19:334–341. https://doi.org/10.1007/s13311-021-01173-9
Lal D, Pernhorst K, Klein KM, Reif P, Tozzi R, Toliat MR, Winterer G, Neubauer B, Nürnberg P, Rosenow F, Becker F, Lerche H, Kunz WS, Kurki MI, Hoffmann P, Becker AJ, Perucca E, Zara F, Sander T, Weber YG (2015) Extending the phenotypic spectrum of RBFOX1 deletions: sporadic focal epilepsy. Epilepsia 56:e129–133. https://doi.org/10.1111/epi.13076
Article CAS PubMed Google Scholar
Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA (2013) RBFOX1 and RBFOX3 mutations in rolandic epilepsy. PLoS ONE 8:e73323. https://doi.org/10.1371/journal.pone.0073323
Article CAS PubMed PubMed Central Google Scholar
Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Baumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmuller J, Thiele H, Lemke JR, Lerche H, Nurnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA (2014) DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol 75:788–792
Article CAS PubMed Google Scholar
Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jahn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Moller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero Lopez R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinbock H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmuller J, Toliat MR, Thiele H, Nurnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S (2013) Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet 45:1067–1072
Article CAS PubMed Google Scholar
Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Martin Saint A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P (2013) GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet 45:1061–1066
Article CAS PubMed Google Scholar
Li X, Xie L‑L, Han W, Hong S‑Q, Ma J‑N, Wang J, Jiang L (2020) Clinical forms and GRIN2A genotype of severe end of epileptic-aphasia spectrum disorder. Front Pediatr 8:574803. https://doi.org/10.3389/fped.2020.574803
Article PubMed PubMed Central Google Scholar
Neubauer BA, Fiedler B, Himmelein B, Kampfer F, Lassker U, Schwabe G, Spanier I, Tams D, Bretscher C, Moldenhauer K, Kurlemann G, Weise S, Tedroff K, Eeg-Olofsson O, Wadelius C, Stephani U (1998) Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology 51:1608–1612
Article CAS PubMed Google Scholar
Pavlidis E, Møller RS, Nikanorova M, Kölmel MS, Stendevad P, Beniczky S, Tassinari CA, Rubboli G, Gardella E (2019) Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a “pure” model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study. Epilepsy Behav EB 97:244–252. https://doi.org/10.1016/j.yebeh.2019.05.030
Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA (2014) GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. Ann Clin Transl Neurol 1:190–198
Article CAS PubMed PubMed Central Google Scholar
Ramos LLP, Monteiro FP, Sampaio LPB, Costa LA, Ribeiro MDO, Freitas EL, Kitajima JP, Kok F (2019) Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment. Clin Case Rep 7:1582–1584. https://doi.org/10.1002/ccr3.2260
Article PubMed PubMed Central Google Scholar
Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR, EuroEPINOMICS Consortium, Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F (2014) Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. Epilepsia 55:e89–e93. https://doi.org/10.1111/epi.12712
Article CAS PubMed Google Scholar
Reutlinger C, Helbig I, Gawelczyk B, Subero JI, Tonnies H, Muhle H, Finsterwalder K, Vermeer S, Pfundt R, Sperner J, Stefanova I, Gillessen-Kaesbach G, von Spiczak S, van Baalen A, Boor R, Siebert R, Stephani U, Caliebe A (2010) Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. Epilepsia 51:1870–1873
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