Details of Disease

General Information of Disease (ID: DISHN8AO)

Disease Name Frontal lobe epilepsy
Synonyms frontal lobe epilepsy; epilepsy of frontal lobe
Definition
A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)
Disease Hierarchy
DISBB28L: Epilepsy
DIS4LY5L: Focal epilepsy
DISHN8AO: Frontal lobe epilepsy
Disease Identifiers
MONDO ID
MONDO_0002612
MESH ID
D017034
UMLS CUI
C0085541
MedGen ID
39074
SNOMED CT ID
230394006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CHRNA4 TT4H1MQ Limited Genetic Variation [1]
CHRNB2 TT5KPZR Limited Genetic Variation [2]
CRH TTA7YIZ Limited Autosomal dominant [3]
KCNT1 TTGJFK1 Limited Genetic Variation [4]
CHRNA2 TTF4E0J Strong Genetic Variation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC4A10 DT7RYVF Definitive Biomarker [5]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CRH OT2MOC4T Limited Autosomal dominant [3]
DEPDC5 OTE70JLY moderate Genetic Variation [6]
TPSG1 OTDESHKT moderate Biomarker [7]
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References

1 A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in a Chinese patient with non-familial nocturnal frontal lobe epilepsy.Epilepsy Res. 2014 Dec;108(10):1927-31. doi: 10.1016/j.eplepsyres.2014.08.024. Epub 2014 Sep 16.
2 Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.Neurology. 2015 Apr 14;84(15):1520-8. doi: 10.1212/WNL.0000000000001471. Epub 2015 Mar 13.
3 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.
4 Infantile refractory seizures due to de novo KCNT 1 mutation.BMJ Case Rep. 2019 Oct 25;12(10):e231178. doi: 10.1136/bcr-2019-231178.
5 Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.Arch Neurol. 2008 Apr;65(4):550-3. doi: 10.1001/archneur.65.4.550.
6 Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.Epilepsia. 2016 Mar;57(3):e60-3. doi: 10.1111/epi.13307. Epub 2016 Jan 20.
7 Emotional asymmetries in refractory medial temporal and frontal lobe epilepsy: Their impact on predicting lateralization and localization of seizures.Epilepsy Behav. 2019 May;94:269-276. doi: 10.1016/j.yebeh.2019.03.008. Epub 2019 Apr 11.