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Childhood epilepsy with centrotemporal spikes

MedGen UID:
138210
Concept ID:
C0376532
Disease or Syndrome
Synonym: 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

Okanishi T, Fujii Y, Sakuma S, Shiraishi H, Motoi H, Yazaki K, Enoki H, Fujimoto A
Brain Dev 2022 Jun;44(6):380-385. Epub 2022 Feb 28 doi: 10.1016/j.braindev.2022.02.005. PMID: 35241306
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Gaillard WD, Chiron C, Cross JH, Harvey AS, Kuzniecky R, Hertz-Pannier L, Vezina LG; ILAE, Committee for Neuroimaging, Subcommittee for Pediatric
Epilepsia 2009 Sep;50(9):2147-53. Epub 2009 Apr 6 doi: 10.1111/j.1528-1167.2009.02075.x. PMID: 19389145

Recent clinical studies

Etiology

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
Okanishi T, Fujii Y, Sakuma S, Shiraishi H, Motoi H, Yazaki K, Enoki H, Fujimoto A
Brain Dev 2022 Jun;44(6):380-385. Epub 2022 Feb 28 doi: 10.1016/j.braindev.2022.02.005. PMID: 35241306
Coskun O, Kipoglu O, Karacabey BN, Kilic MA, Simsek Ceran D, Yildiz EP, Aydınlı N, Caliskan M
Epilepsy Behav 2021 Jul;120:108029. Epub 2021 May 13 doi: 10.1016/j.yebeh.2021.108029. PMID: 33992962
Şanlıdağ B, Köken ÖY, Temel EÜ, Arhan E, Aydın K, Serdaroğlu A
Seizure 2020 Jul;79:44-48. Epub 2020 May 5 doi: 10.1016/j.seizure.2020.04.003. PMID: 32416566
Glauser TA
Curr Opin Pediatr 1995 Dec;7(6):640-9. doi: 10.1097/00008480-199512000-00003. PMID: 8776013

Diagnosis

Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Teixeira JM, Santos ME, Oom P
Epilepsy Behav 2020 Oct;111:107328. Epub 2020 Sep 9 doi: 10.1016/j.yebeh.2020.107328. PMID: 33027869
Lesca G, Møller RS, Rudolf G, Hirsch E, Hjalgrim H, Szepetowski P
Epileptic Disord 2019 Jun 1;21(S1):41-47. doi: 10.1684/epd.2019.1056. PMID: 31149903
Kirby A, Williams N, Koelewijn L, Brindley LM, Muthukumaraswamy SD, Te Water Naudé J, Thomas M, Gibbon F, Singh KD, Hamandi K
Epilepsy Behav 2017 Jul;72:122-126. Epub 2017 Jun 7 doi: 10.1016/j.yebeh.2017.04.014. PMID: 28575760
Glauser TA
Curr Opin Pediatr 1995 Dec;7(6):640-9. doi: 10.1097/00008480-199512000-00003. PMID: 8776013

Therapy

Okanishi T, Fujii Y, Sakuma S, Shiraishi H, Motoi H, Yazaki K, Enoki H, Fujimoto A
Brain Dev 2022 Jun;44(6):380-385. Epub 2022 Feb 28 doi: 10.1016/j.braindev.2022.02.005. PMID: 35241306
An O, Nagae LM, Aringazina A, Winesett SP
J Int Med Res 2021 Aug;49(8):3000605211039805. doi: 10.1177/03000605211039805. PMID: 34459274Free PMC Article
Coskun O, Kipoglu O, Karacabey BN, Kilic MA, Simsek Ceran D, Yildiz EP, Aydınlı N, Caliskan M
Epilepsy Behav 2021 Jul;120:108029. Epub 2021 May 13 doi: 10.1016/j.yebeh.2021.108029. PMID: 33992962
Vannest J, Tenney JR, Gelineau-Morel R, Maloney T, Glauser TA
Epilepsy Behav 2015 Apr;45:85-91. Epub 2015 Mar 13 doi: 10.1016/j.yebeh.2015.01.041. PMID: 25775975
Morris GL
Epilepsia 1999;40 Suppl 5:S63-70. doi: 10.1111/j.1528-1157.1999.tb00921.x. PMID: 10530696

Prognosis

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
Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386
Wu L, Yang X, Wang X, Yu S, Yang B
J Clin Neurosci 2021 Jun;88:22-27. Epub 2021 Mar 29 doi: 10.1016/j.jocn.2021.03.022. PMID: 33992188
Gaillard WD, Chiron C, Cross JH, Harvey AS, Kuzniecky R, Hertz-Pannier L, Vezina LG; ILAE, Committee for Neuroimaging, Subcommittee for Pediatric
Epilepsia 2009 Sep;50(9):2147-53. Epub 2009 Apr 6 doi: 10.1111/j.1528-1167.2009.02075.x. PMID: 19389145
Stephani U
Epileptic Disord 2000;2 Suppl 1:S3-4. PMID: 11231216

Clinical prediction guides

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
Ito Y, Maki Y, Okai Y, Kidokoro H, Bagarinao E, Takeuchi T, Ohno A, Nakata T, Ishihara N, Okumura A, Yamamoto H, Maesawa S, Natsume J
Pediatr Int 2022 Jan;64(1):e15001. doi: 10.1111/ped.15001. PMID: 34562291
Coskun O, Kipoglu O, Karacabey BN, Kilic MA, Simsek Ceran D, Yildiz EP, Aydınlı N, Caliskan M
Epilepsy Behav 2021 Jul;120:108029. Epub 2021 May 13 doi: 10.1016/j.yebeh.2021.108029. PMID: 33992962
Şanlıdağ B, Köken ÖY, Temel EÜ, Arhan E, Aydın K, Serdaroğlu A
Seizure 2020 Jul;79:44-48. Epub 2020 May 5 doi: 10.1016/j.seizure.2020.04.003. PMID: 32416566
Bear JJ, Chapman KE, Tregellas JR
Epilepsia 2019 Aug;60(8):1491-1507. Epub 2019 Jun 27 doi: 10.1111/epi.16098. PMID: 31247129Free PMC Article

Recent systematic reviews

Asadi-Pooya AA, Forouzesh M, Eidi H, Mirzaghafour SE
Epilepsy Behav 2019 May;94:1-8. Epub 2019 Mar 15 doi: 10.1016/j.yebeh.2019.02.009. PMID: 30884401
Teixeira J, Santos ME
Epilepsy Behav 2018 Jul;84:15-21. Epub 2018 May 3 doi: 10.1016/j.yebeh.2018.04.002. PMID: 29730501

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