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Self-limited epilepsy with centrotemporal spikes

MedGen UID:
138210
Concept ID:
C0376532
Disease or Syndrome
Synonyms: Childhood epilepsy with centrotemporal spikes; Rolandic epilepsy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related gene: GRIN2A
 
Monarch Initiative: MONDO:0007295
Orphanet: ORPHA1945

Definition

Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Lacey AS, Jones CB, Ryoo SG, Stephen J, Weir CJ, Pickrell WO, Chin RF
Seizure 2024 Nov;122:52-57. Epub 2024 Sep 11 doi: 10.1016/j.seizure.2024.09.008. PMID: 39361977
Zeng Q, Xia X, Jiang L, Chen J, Liu Y, Hu Y
J Neurol 2024 Jul;271(7):4566-4576. Epub 2024 May 8 doi: 10.1007/s00415-024-12416-y. PMID: 38717610
Itamura S, Sasaki K, Fujii Y, Okano R
Pediatr Int 2023 Jan-Dec;65(1):e15523. doi: 10.1111/ped.15523. PMID: 36912459

Recent clinical studies

Etiology

Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P
Epilepsia Open 2024 Aug;9(4):1192-1232. Epub 2024 Jun 4 doi: 10.1002/epi4.12951. PMID: 38837855Free PMC Article
Nascimento FA, Friedman D, Peters JM, Bensalem-Owen MK, Cendes F, Rampp S, Wirrell E, Blümcke I, Tatum W, Beniczky S
Epileptic Disord 2023 Feb;25(1):1-17. Epub 2023 Apr 17 doi: 10.1002/epd2.20045. PMID: 36938903
Yin Y, Wang F, Yang Y, Tian M, Gao L, Liu H
Epilepsy Behav 2022 Nov;136:108940. Epub 2022 Oct 10 doi: 10.1016/j.yebeh.2022.108940. PMID: 36228484
Ramos IDSS, Coelho CVG, Ribeiro F, Lopes AF
Child Neuropsychol 2022 Jan;28(1):30-60. Epub 2021 Jul 12 doi: 10.1080/09297049.2021.1945019. PMID: 34251988
Zanaboni MP, Varesio C, Pasca L, Foti A, Totaro M, Celario M, Provenzi L, De Giorgis V
Epilepsy Behav 2021 Oct;123:108254. Epub 2021 Aug 21 doi: 10.1016/j.yebeh.2021.108254. PMID: 34428616

Diagnosis

Gao L, Li X, Li H, Zhang H, Liu X, Yang J
Seizure 2024 Aug;120:104-109. Epub 2024 Jun 22 doi: 10.1016/j.seizure.2024.06.021. PMID: 38941800
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P
Epilepsia Open 2024 Aug;9(4):1192-1232. Epub 2024 Jun 4 doi: 10.1002/epi4.12951. PMID: 38837855Free PMC Article
Nascimento FA, Friedman D, Peters JM, Bensalem-Owen MK, Cendes F, Rampp S, Wirrell E, Blümcke I, Tatum W, Beniczky S
Epileptic Disord 2023 Feb;25(1):1-17. Epub 2023 Apr 17 doi: 10.1002/epd2.20045. PMID: 36938903
Sousa E, Pinto M, Ferreira M, Monteiro C
Rev Neurol 2023 Mar 1;76(5):153-158. doi: 10.33588/rn.7605.2022385. PMID: 36843175Free PMC Article
Jeon Y, Chung YG, Joo T, Kim H, Hwang H, Kim KJ
IEEE Trans Neural Syst Rehabil Eng 2022;30:2939-2949. Epub 2022 Oct 27 doi: 10.1109/TNSRE.2022.3215526. PMID: 36260578

Therapy

Lacey AS, Jones CB, Ryoo SG, Stephen J, Weir CJ, Pickrell WO, Chin RF
Seizure 2024 Nov;122:52-57. Epub 2024 Sep 11 doi: 10.1016/j.seizure.2024.09.008. PMID: 39361977
Zeng Q, Xia X, Jiang L, Chen J, Liu Y, Hu Y
J Neurol 2024 Jul;271(7):4566-4576. Epub 2024 May 8 doi: 10.1007/s00415-024-12416-y. PMID: 38717610
Liu X, Zhang X, Yu T, Dang R, Li J, Hu B, Wang Q, Luo R
Brain Res 2024 May 1;1830:148813. Epub 2024 Feb 17 doi: 10.1016/j.brainres.2024.148813. PMID: 38373675
Itamura S, Sasaki K, Fujii Y, Okano R
Pediatr Int 2023 Jan-Dec;65(1):e15523. doi: 10.1111/ped.15523. PMID: 36912459
Wickens S, Bowden SC, D'Souza W
Epilepsia 2017 Oct;58(10):1673-1685. Epub 2017 Aug 12 doi: 10.1111/epi.13865. PMID: 28801973

Prognosis

Garnica-Agudelo D, Smith SDW, van de Velden D, Weise D, Brockmann K, Focke NK
Clin Neurophysiol 2025 Mar;171:107-123. Epub 2025 Jan 24 doi: 10.1016/j.clinph.2024.12.028. PMID: 39891999
Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717
Zanaboni MP, Varesio C, Pasca L, Foti A, Totaro M, Celario M, Provenzi L, De Giorgis V
Epilepsy Behav 2021 Oct;123:108254. Epub 2021 Aug 21 doi: 10.1016/j.yebeh.2021.108254. PMID: 34428616
Galicchio S, Espeche A, Cersosimo R, Chacon S, Gamboni B, Adi J, Fasulo L, Semprino M, Fortini S, Cachia P, Caraballo RH
Epilepsy Res 2021 Jan;169:106507. Epub 2020 Nov 21 doi: 10.1016/j.eplepsyres.2020.106507. PMID: 33296810
Alving J, Fabricius M, Rosenzweig I, Beniczky S
Seizure 2017 Nov;52:7-10. Epub 2017 Sep 14 doi: 10.1016/j.seizure.2017.09.006. PMID: 28926747Free PMC Article

Clinical prediction guides

Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P
Epilepsia Open 2024 Aug;9(4):1192-1232. Epub 2024 Jun 4 doi: 10.1002/epi4.12951. PMID: 38837855Free PMC Article
Xu F, Xu Y, Wang Y, Niu K, Li Y, Wang P, Li Y, Sun J, Chen Q, Wang X
Clin Neurophysiol 2023 Aug;152:11-21. Epub 2023 May 18 doi: 10.1016/j.clinph.2023.05.005. PMID: 37257319
Sousa E, Pinto M, Ferreira M, Monteiro C
Rev Neurol 2023 Mar 1;76(5):153-158. doi: 10.33588/rn.7605.2022385. PMID: 36843175Free PMC Article
Jeon Y, Chung YG, Joo T, Kim H, Hwang H, Kim KJ
IEEE Trans Neural Syst Rehabil Eng 2022;30:2939-2949. Epub 2022 Oct 27 doi: 10.1109/TNSRE.2022.3215526. PMID: 36260578
Wickens S, Bowden SC, D'Souza W
Epilepsia 2017 Oct;58(10):1673-1685. Epub 2017 Aug 12 doi: 10.1111/epi.13865. PMID: 28801973

Recent systematic reviews

Ramos IDSS, Coelho CVG, Ribeiro F, Lopes AF
Child Neuropsychol 2022 Jan;28(1):30-60. Epub 2021 Jul 12 doi: 10.1080/09297049.2021.1945019. PMID: 34251988
Zanaboni MP, Varesio C, Pasca L, Foti A, Totaro M, Celario M, Provenzi L, De Giorgis V
Epilepsy Behav 2021 Oct;123:108254. Epub 2021 Aug 21 doi: 10.1016/j.yebeh.2021.108254. PMID: 34428616
Wickens S, Bowden SC, D'Souza W
Epilepsia 2017 Oct;58(10):1673-1685. Epub 2017 Aug 12 doi: 10.1111/epi.13865. PMID: 28801973

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