Details of Disease

General Information of Disease (ID: DISKT2L5)

Disease Name Childhood epilepsy with centrotemporal spikes
Synonyms
benign epilepsy of childhood with centrotemporal spikes (BECCT); benign epilepsy with centro-temporal spikes (BECTS); benign familial epilepsy of childhood with rolandic spikes; BECRS; centrotemporal epilepsy; benign childhood epilepsy with centrotemporal spike; benign Rolandic epilepsy (BRE); centrotemporal epilepsy, isolated cases; BRE; benign childhood epilepsy with centrotemporal spikes; temporal-central focal epilepsy; benign epilepsy with centrotemporal spikes; sylvan seizures; Rolandic epilepsy; benign epilepsy of childhood with centrotemporal spikes; benign Rolandic epilepsy; BCECTS; benign Rolandic epilepsy of childhood (BREC); BECTS; centralopathic epilepsy
Definition
A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.|Childhood epilepsy with centrotemporal spikes, atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-and-wave during sleep and Landau Kleffner syndrome are syndromes that have in common certain EEG features, with variable severity of focal seizures and neurocognitive impairment. They may be considered as a spectrum, an individual child may transition from one of these syndromes to another over time.
Disease Hierarchy
DISHLPYW: Familial partial epilepsy
DIS9O5K5: Childhood electroclinical syndrome
DISKT2L5: Childhood epilepsy with centrotemporal spikes
Disease Identifiers
MONDO ID
MONDO_0007295
MESH ID
D019305
UMLS CUI
C0376532
MedGen ID
138210
Orphanet ID
1945

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 15 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNQ3 TTIVDM3 Limited CausalMutation [1]
GABRG2 TT06RH5 Supportive Autosomal dominant [2]
GRIN2A TTKJEMQ Supportive Autosomal dominant [3]
KCNQ2 TTPXI3S moderate Genetic Variation [4]
GABRG2 TT06RH5 Strong GermlineCausalMutation [2]
GRIN1 TTLD29N Strong CausalMutation [1]
GRIN2A TTKJEMQ Strong Genetic Variation [5]
KCNT1 TTGJFK1 Strong CausalMutation [1]
PLCB1 TTLPGU7 Strong CausalMutation [1]
SCN2A TTLJTUF Strong CausalMutation [1]
SCN9A TT4G2JS Strong Genetic Variation [6]
SLC12A6 TT8DFHE Strong Genetic Variation [7]
SLC6A1 TTPRKM0 Strong CausalMutation [1]
ATP1A2 TT5B6HJ Definitive Biomarker [8]
SCN1A TTANOZH Definitive CausalMutation [1]
------------------------------------------------------------------------------------
⏷ Show the Full List of 15 DTT(s)
This Disease Is Related to 27 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BRWD3 OT3BM9B0 Limited Autosomal dominant [9]
GABRG2 OTGNDWUO Supportive Autosomal dominant [2]
GRIN2A OTTP0KN8 Supportive Autosomal dominant [3]
ASAH1 OT1DNGXL Strong CausalMutation [1]
CHD2 OTRKL6YC Strong CausalMutation [1]
CNTNAP2 OT48T2ZP Strong CausalMutation [1]
CPA6 OT43RD23 Strong CausalMutation [1]
CSTB OT3U0JF8 Strong CausalMutation [1]
DEPDC5 OTE70JLY Strong CausalMutation [1]
ELP1 OTYEWBF7 Strong Genetic Variation [10]
EPM2A OTJU4IAG Strong CausalMutation [1]
IER3IP1 OTCYSU28 Strong CausalMutation [1]
PCDH19 OTSOW3MV Strong CausalMutation [1]
PRICKLE2 OTWBA48T Strong CausalMutation [1]
RBFOX2 OTXY1WVH Strong Genetic Variation [11]
RELN OTLKMW1O Strong CausalMutation [1]
SCARB2 OTN929M8 Strong CausalMutation [1]
SCN1B OTGD78J3 Strong CausalMutation [1]
SNIP1 OTL3RA91 Strong CausalMutation [1]
SPTAN1 OT6VY3A3 Strong CausalMutation [1]
STRADA OTG1Z6TY Strong CausalMutation [1]
SZT2 OTB4FVP4 Strong CausalMutation [1]
TBC1D24 OTKZUSMD Strong CausalMutation [1]
MDGA2 OTIJ0T5J Definitive Biomarker [12]
RBFOX1 OTFPKEL7 Definitive CausalMutation [1]
RBFOX3 OTL0F3D6 Definitive CausalMutation [1]
SEMA3C OTEGUY7F Definitive Genetic Variation [13]
------------------------------------------------------------------------------------
⏷ Show the Full List of 27 DOT(s)

References

1 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22.
2 Rare variants in -aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28.
3 Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11.
4 Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.Brain Dev. 2009 Aug;31(7):515-20. doi: 10.1016/j.braindev.2009.04.012. Epub 2009 May 22.
5 Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.Neurosci Bull. 2018 Apr;34(2):237-246. doi: 10.1007/s12264-017-0182-6. Epub 2017 Sep 21.
6 G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters.Neurol Sci. 2019 Jul;40(7):1457-1460. doi: 10.1007/s10072-019-03752-3. Epub 2019 Mar 4.
7 Mutation analysis of the potassium chloride cotransporter KCC3 (SLC12A6) in rolandic and idiopathic generalized epilepsy. Epilepsy Res. 2001 May;44(2-3):191-5.
8 Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci.Genes Brain Behav. 2014 Mar;13(3):333-40. doi: 10.1111/gbb.12110. Epub 2013 Dec 26.
9 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
10 Animal and cellular models of familial dysautonomia.Clin Auton Res. 2017 Aug;27(4):235-243. doi: 10.1007/s10286-017-0438-2. Epub 2017 Jun 30.
11 RBFOX1 and RBFOX3 mutations in rolandic epilepsy.PLoS One. 2013 Sep 6;8(9):e73323. doi: 10.1371/journal.pone.0073323. eCollection 2013.
12 Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.Epilepsia. 2012 Sep;53(9):1526-38. doi: 10.1111/j.1528-1167.2012.03559.x. Epub 2012 Jun 27.
13 The genetics of reading disability in an often excluded sample: novel loci suggested for reading disability in Rolandic epilepsy.PLoS One. 2012;7(7):e40696. doi: 10.1371/journal.pone.0040696. Epub 2012 Jul 18.