DiseaseID 1747
癫痫先兆
disease
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical feature
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Experiment: 5Formula: 24Herb: 12Symptom: 12Target: 24Links: 77
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 1747
- Core Entity Id
- 1967
- Source Entity Count
- 1
- Preferred Name
- Aura
- Name Cn
- 癫痫先兆
- Name Pinyin
- Dian Xian Xian Zhao
- Name En
- Aura
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesNervous System DiseasesNervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Nervous System Diseases
- Hpo Class Name
- Abnormality of the nervous system
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Aura
Role
preferred
Name
Absence Epilepsy
Role
preferred
Name
Akinetic Epilepsy
Role
preferred
Name
Amygdalo-Hippocampal Epilepsies
Role
preferred
Name
Atonic Epilepsies
Role
preferred
Name
Benign Familial Infantile Epilepsy
Role
preferred
Name
Benign Focal Epilepsy, Childhood
Role
preferred
Name
Benign Infantile Myoclonic Epilepsy
Role
preferred
Name
Benign Neonatal Epilepsy
Role
preferred
Name
Benign Neonatal Epilepsy, Nonfamilial
Role
preferred
Name
Benign Occipital Epilepsy, Childhood
Role
preferred
Name
Complex Partial Seizure With Impairment Of Consciousness
Role
preferred
Name
Complex Partial Seizures
Role
preferred
Name
Convulsion Jacksonian
Role
preferred
Name
Cryptogenic Myoclonic Epilepsies
Role
preferred
Name
Early Childhood Epilepsy, Myoclonic
Role
preferred
Name
Epilepsies, Myoclonic
Role
preferred
Name
Epilepsies, Occipital Lobe
Role
preferred
Name
Epilepsies, Partial
Role
preferred
Name
Epilepsies, Rhinencephalic
Role
preferred
Name
Epilepsies, Symptomatic Myoclonic
Role
preferred
Name
Epilepsy Visual
Role
preferred
Name
Epilepsy, Absence, Atypical
Role
preferred
Name
Epilepsy, Familial Adult Myoclonic, 3
Role
preferred
Name
Epilepsy, Generalized
Role
preferred
Name
Epilepsy, Myoclonic, Infantile
Role
preferred
Name
Epilepsy; Grand Mal, On Awakening
Role
preferred
Name
Epileptic Drop Attack
Role
preferred
Name
Epileptic Encephalopathy, Early Infantile, 16
Role
preferred
Name
Epileptic Encephalopathy, Early Infantile, 30
Role
preferred
Name
Epileptic Encephalopathy, Early Infantile, 31
Role
preferred
Name
Epileptic Encephalopathy, Early Infantile, 4
Role
preferred
Name
Epileptic Vertigo
Role
preferred
Name
Familial Infantile Myoclonic Epilepsy
Role
preferred
Name
Gelastic Epilepsy
Role
preferred
Name
Generalized Convulsive Seizure
Role
preferred
Name
Generalized Epilepsy With Febrile Seizures Plus
Role
preferred
Name
Myoclonic Absence Epilepsy
Role
preferred
Name
Myoclonic Encephalopathy
Role
preferred
Name
Myoclonic Epilepsies, Progressive
Role
preferred
Name
Myoclonic-Atonic Epilepsy
Role
preferred
Name
Nonepileptic Seizures
Role
preferred
Name
Olfactory Seizure
Role
preferred
Name
Oth Gen Epilep + Epilep Syn
Role
preferred
Name
Seizure Disorder Generalized Nonconvulsive
Role
preferred
Name
Seizure Focal Motor
Role
preferred
Name
Seizure, Auditory, Partial
Role
preferred
Name
Seizure, Somatosensory
Role
preferred
Name
Seizure, Versive
Role
preferred
Name
Seizures, Benign Familial Infantile, 2
Role
preferred
Name
Seizures, Benign Familial Infantile, 3
Role
preferred
Name
Seizures, Benign Familial Neonatal, 1
Role
preferred
Name
Simple Partial Seizures
Role
preferred
Name
Symptomatic Generalized Epilepsy
Role
preferred
Name
Absence Seizure Disorder
Role
preferred
Name
Absence Seizures
Role
preferred
Name
Action Myoclonus-Renal Failure Syndrome
Role
preferred
Name
Akinetic Petit Mal
Role
preferred
Name
Amygdalo-Hippocampal Epilepsy
Role
preferred
Name
Atonic Absence Seizures
Role
preferred
Name
Atypical Inclusion-Body Disease
Role
preferred
Name
Awakening Epilepsy
Role
preferred
Name
Benign Adult Familial Myoclonic Epilepsy
Role
preferred
Name
Benign Familial Neonatal Epilepsy
Role
preferred
Name
Benign Occipital Epilepsy
Role
preferred
Name
Biotin-Responsive Encephalopathy
Role
preferred
Name
Childhood Absence Epilepsy
Role
preferred
Name
Childhood Benign Occipital Epilepsy
Role
preferred
Name
Clonic Seizures
Role
preferred
Name
Convulsions
Role
preferred
Name
Convulsions, Benign Familial Infantile, 1
Role
preferred
Name
Convulsions, Benign Familial Infantile, 4
Role
preferred
Name
Convulsive Seizures
Role
preferred
Name
Dentatorubral-Pallidoluysian Atrophy
Role
preferred
Name
Digestive Epilepsy
Role
preferred
Name
Digitorenocerebral Syndrome
Role
preferred
Name
EPILEPSY, BENIGN NEONATAL, 2
Role
preferred
Name
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
Role
preferred
Name
EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2
Role
preferred
Name
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41
Role
preferred
Name
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
Role
preferred
Name
Early Infantile Epileptic Encephalopathy 6
Role
preferred
Name
Early Myoclonic Encephalopathy
Role
preferred
Name
Early-Onset Lafora Body Disease
Role
preferred
Name
Epilepsy
Role
preferred
Name
Epilepsy, Akinetic
Role
preferred
Name
Epilepsy, Atonic
Role
preferred
Name
Epilepsy, Benign Neonatal, 1, And-Or Myokymia
Role
preferred
Name
Epilepsy, Benign Neonatal, 3
Role
preferred
Name
Epilepsy, Cryptogenic
Role
preferred
Name
Epilepsy, Minor
Role
preferred
Name
Epilepsy, Partial, Motor
Role
preferred
Name
Epilepsy, Simple Partial
Role
preferred
Name
Epilepsy, Tonic
Role
preferred
Name
Epileptic Encephalopathy, Early Infantile, 6
Role
preferred
Name
Epileptic Seizures
Role
preferred
Name
Familial Benign Neonatal Epilepsy
Role
preferred
Name
Familial Progressive Myoclonic Epilepsy
Role
preferred
Name
Focal Clonic Seizures
Role
preferred
Name
Focal Tonic Seizures
Role
preferred
Name
Generalized Absence Seizures
Role
preferred
Name
Generalized Convulsive Epilepsy
Role
preferred
Name
Generalized Myoclonic Seizures
Role
preferred
Name
Generalized Nonconvulsive Seizure Disorder
Role
preferred
Name
Generalized Seizures
Role
preferred
Name
Gustatory Seizure
Role
preferred
Name
Idiopathic Generalized Epilepsy
Role
preferred
Name
Idiopathic Myoclonic Epilepsy
Role
preferred
Name
Infantile Convulsions And Choreoathetosis
Role
preferred
Name
Infantile Severe Myoclonic Epilepsy
Role
preferred
Name
Jacksonian Seizure
Role
preferred
Name
Juvenile Absence Epilepsy
Role
preferred
Name
Kcnq2-Related Epileptic Encephalopathy
Role
preferred
Name
Lennox-Gastaut Syndrome
Role
preferred
Name
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY
Role
preferred
Name
May-White Syndrome
Role
preferred
Name
Myoclonic Astatic Epilepsy
Role
preferred
Name
Myoclonic Epilepsy
Role
preferred
Name
Myoclonic Seizures
Role
preferred
Name
Myoclonic-Astastic Epilepsy
Role
preferred
Name
Non-Epileptic Convulsion
Role
preferred
Name
Occipital Lobe Epilepsy
Role
preferred
Name
Panayiotopoulos Syndrome
Role
preferred
Name
Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia
Role
preferred
Name
Recurrent Seizure
Role
preferred
Name
Rhinencephalic Epilepsy
Role
preferred
Name
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
Role
preferred
Name
SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
Role
preferred
Name
Seizures
Role
preferred
Name
Seizures, Auditory
Role
preferred
Name
Seizures, Focal
Role
preferred
Name
Seizures, Sensory
Role
preferred
Name
Seizures, Somatosensory
Role
preferred
Name
Single Seizure
Role
preferred
Name
Subclinical Seizure
Role
preferred
Name
Symptomatic Myoclonic Epilepsy
Role
preferred
Name
Tonic - Clonic Seizures
Role
preferred
Name
Tonic Seizures
Role
preferred
Name
Uncinate Seizures
Role
preferred
Name
Unverricht-Lundborg Disease
Role
preferred
Name
Unverricht-Lundborg Syndrome
Role
preferred
Name
Vertiginous Seizure
Role
preferred
Name
Visual Seizure
Role
preferred
Name
Astatic Seizures
Role
alias
Name
Atonic Seizures
Role
alias
Name
BFIC3
Role
alias
Name
BFIE
Role
alias
Name
BFIS
Role
alias
Name
BFIS3
Role
alias
Name
BFNIS
Role
alias
Name
BFNS1
Role
alias
Name
Bafme2
Role
alias
Name
Benign Familial Infantile Convulsions
Role
alias
Name
Benign Familial Infantile Seizures
Role
alias
Name
Benign Neonatal Seizures
Role
alias
Name
Bfnc2
Role
alias
Name
Bfnc3
Role
alias
Name
Brief Seizures With Staring Spells
Role
alias
Name
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3
Role
alias
Name
Complex Focal Seizures
Role
alias
Name
Convulsion, Non Epileptic
Role
alias
Name
Convulsions Benign Familial Neonatal Dominant Form
Role
alias
Name
Convulsions, Benign Familial Infantile, 2
Role
alias
Name
Convulsive Epilepsy, Generalized
Role
alias
Name
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Role
alias
Name
Dravet Syndrome
Role
alias
Name
Drop Attacks
Role
alias
Name
Drop Seizures
Role
alias
Name
Dyscognitive Seizures
Role
alias
Name
EIEE30
Role
alias
Name
EIEE31
Role
alias
Name
EIEE4
Role
alias
Name
EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA
Role
alias
Name
Early Infantile Epileptic Encephalopathy 16
Role
alias
Name
Early Infantile Epileptic Encephalopathy 3
Role
alias
Name
Early Infantile Epileptic Encephalopathy 30
Role
alias
Name
Early Infantile Epileptic Encephalopathy 31
Role
alias
Name
Early Infantile Epileptic Encephalopathy 4
Role
alias
Name
Early Infantile Epileptic Encephalopathy 41
Role
alias
Name
Early Infantile Epileptic Encephalopathy 43
Role
alias
Name
Eim
Role
alias
Name
Epilepsy, Absence
Role
alias
Name
Epilepsy, Benign Neonatal
Role
alias
Name
Epilepsy, Benign Occipital
Role
alias
Name
Epilepsy, Familial Adult Myoclonic, 2
Role
alias
Name
Epilepsy, Idiopathic Generalized
Role
alias
Name
Epilepsy, Myoclonic, Benign Adult Familial, Type 1
Role
alias
Name
Epilepsy, Progressive Myoclonic, 1B
Role
alias
Name
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Role
alias
Name
Epilepsy, Unspecified
Role
alias
Name
Epileptic Encephalopathy, Early Infantile, 3
Role
alias
Name
Epm1B
Role
alias
Name
FIME
Role
alias
Name
Familial Infantile Myoclonus Epilepsy
Role
alias
Name
Focal Aware Seizure
Role
alias
Name
Focal Aware Seizures
Role
alias
Name
Focal Epilepsy
Role
alias
Name
Focal Impaired Awareness Seizure
Role
alias
Name
Focal Impaired Awareness Seizures
Role
alias
Name
Focal Motor Seizures
Role
alias
Name
Focal Seizure With Retained Awareness
Role
alias
Name
Focal Seizure Without Impairment of Consciousness Or Awareness
Role
alias
Name
Focal Seizures
Role
alias
Name
Focal Seizures With Impairment of Consciousness Or Awareness
Role
alias
Name
Focal Seizures Without Impairment of Consciousness Or Awareness
Role
alias
Name
Focal-Onset Seizure
Role
alias
Name
Focal-Onset Seizures
Role
alias
Name
Gelastic Seizures
Role
alias
Name
Generalised Tonic-Clonic Seizures
Role
alias
Name
Generalized Clonic-Tonic Seizures
Role
alias
Name
Generalized Idiopathic Epilepsy And Epileptic Syndromes
Role
alias
Name
Generalized Tonic Clonic Seizures
Role
alias
Name
Generalized-Onset Seizure
Role
alias
Name
Generalized-Onset Seizures
Role
alias
Name
Grand Mal Seizures
Role
alias
Name
Grand Mal Seizures, Unspecified (With Or Without Petit Mal)
Role
alias
Name
Local Tonic Seizures
Role
alias
Name
Localized Clonic Seizure
Role
alias
Name
Localized Motor Seizures
Role
alias
Name
MAE
Role
alias
Name
Myoclonic Atonic Seizures
Role
alias
Name
Myoclonic Epilepsy of Unverricht And Lundborg
Role
alias
Name
Myoclonic Epilepsy, Familial Infantile
Role
alias
Name
Myoclonic Epilepsy, Progressive
Role
alias
Name
Myoclonus Seizures
Role
alias
Name
Partial Clonic Seizure
Role
alias
Name
Partial Motor Epilepsy
Role
alias
Name
Partial Motor Seizures
Role
alias
Name
Partial Seizures
Role
alias
Name
Partial Seizures, Complex
Role
alias
Name
Partial Tonic Seizures
Role
alias
Name
Petit Mal Seizures
Role
alias
Name
Petit Mal, Unspecified, Without Grand Mal Seizures
Role
alias
Name
Prickle1-Related Progressive Myoclonic Epilepsy With Ataxia
Role
alias
Name
Progressive Myoclonic Epilepsy
Role
alias
Name
Progressive Myoclonus Epilepsy
Role
alias
Name
Progressive Myoclonus Epilepsy 1A
Role
alias
Name
Progressive Myoclonus Epilepsy 1B
Role
alias
Name
Progressive Myoclonus Epilepsy 4
Role
alias
Name
SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE
Role
alias
Name
Seizure
Role
alias
Name
Seizure, Gustatory
Role
alias
Name
Seizure, Olfactory
Role
alias
Name
Seizure, Vertiginous
Role
alias
Name
Seizure, Visual
Role
alias
Name
Seizures, Benign Familial Infantile, 1
Role
alias
Name
Seizures, Benign Familial Infantile, 4
Role
alias
Name
Seizures, Benign Familial Neonatal, 2
Role
alias
Name
Seizures, Benign Familial Neonatal, 3
Role
alias
Name
Seizures, Generalized
Role
alias
Name
Seizures, Generalized Tonic-Clonic
Role
alias
Name
Seizures, Tonic Clonic
Role
alias
Name
Seizures, Tonic-Clonic
Role
alias
Name
Severe Myoclonic Epilepsy of Infancy
Role
alias
Name
Simple Partial Seizure
Role
alias
Name
Tonic-Clonic Convulsion
Role
alias
Name
Tonic-Clonic Convulsions
Role
alias
Name
Visual Epilepsy
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002121HP:0002123HP:0002266HP:0002349HP:0002384HP:0010819HP:0010821HP:0011153HP:0011167HP:0011170
Herb
HBDIS000094HBDIS000956HBDIS000957HBDIS000958HBDIS000960HBDIS000961HBDIS001089HBDIS001144HBDIS001580HBDIS002712HBDIS003391HBDIS003392HBDIS003394HBDIS003520HBDIS004501HBDIS004915HBDIS004916HBDIS004936HBDIS005039HBDIS005118HBDIS006506HBDIS006508HBDIS006509HBDIS006510HBDIS006511HBDIS006512HBDIS006513HBDIS006515HBDIS006516HBDIS007323HBDIS007667HBDIS007668HBDIS008421HBDIS008694HBDIS008699HBDIS008700HBDIS008703HBDIS008704HBDIS009087HBDIS009088HBDIS009089HBDIS009090HBDIS009091HBDIS009474HBDIS009738HBDIS011032HBDIS011145HBDIS011160HBDIS011161HBDIS011165HBDIS011166HBDIS011167HBDIS011168HBDIS011326HBDIS011327HBDIS011328HBDIS011453HBDIS011454HBDIS011455HBDIS011456HBDIS011457HBDIS011458HBDIS011459HBDIS011462HBDIS011598HBDIS011599HBDIS011658HBDIS012370HBDIS015119HBDIS015931HBDIS015971HBDIS016001HBDIS016891HBDIS019372HBDIS019437HBDIS019495HBDIS019913HBDIS020591HBDIS020592HBDIS021526HBDIS021576HBDIS022256HBDIS022322HBDIS023850HBDIS025296HBDIS025554HBDIS025759HBDIS025762HBDIS025892HBDIS025983HBDIS026284HBDIS026289HBDIS026294HBDIS026418HBDIS026433HBDIS026435HBDIS026449HBDIS026737HBDIS026815HBDIS027229HBDIS027303HBDIS027441HBDIS027469HBDIS028268HBDIS028376HBDIS028482HBDIS028483HBDIS028484HBDIS028485HBDIS028584HBDIS028585HBDIS028586HBDIS028896HBDIS028917HBDIS029262
Me Sh
D004828D004829D004831D004832D020191D020194D020936D020938D065768
Omim
121200121201125370132090220500254800254900269269720310370606369607208607745608217609304612164612437615338616341616346616421617080617105617113
Umls
C0014547C0014548C0014550C0014553C0016399C0017332C0086236C0149958C0220669C0234974C0238111C0270820C0270834C0270846C0270847C0270850C0270851C0270854C0270855C0311334C0338478C0338479C0347869C0393675C0393679C0393681C0393691C0393693C0393695C0393697C0393702C0393703C0422846C0438414C0477370C0751120C0751122C0751124C0751778C0751781C0751785C0795934C0917800C1843140C1853995C1865926C2236802C2677326C2751195C2930911C2930918C2931846C3149074C3149075C3150860C3502809C3809173C4085238C4225357C4225360C4273988
Icd10
G40G40.3G40.309G40.40G40.6G40.7G40.A
Med Dra
1004881610054895
Sym Map
SMDE00037SMDE00282SMDE00802SMDE01041SMDE01148SMDE01576SMDE01601SMDE01730SMDE01815SMDE01858SMDE02091SMDE02939SMDE02961SMDE03657SMDE03938SMDE03954SMDE04210SMDE04346SMDE04355SMDE04517SMDE05208SMDE05299SMDE05662SMDE05792SMDE06120SMDE06353SMDE06356SMDE06364SMDE06365SMDE06371SMDE07389SMDE07390SMDE07548SMDE07656SMDE07919SMDE08116SMDE08380SMDE08381SMDE08383SMDE08384SMDE08386SMDE08396SMDE08399SMDE08401SMDE08404SMDE08408SMDE08420SMDE08426SMDE08428SMDE08429SMDE08971SMDE08983SMDE08985SMDE08992SMDE09760SMDE11227SMDE11233SMDE11234SMDE11534SMDE11592SMDE11707SMDE13035SMDE13036SMDE13039SMDE13048SMDE13051SMDE13057SMDE13166SMDE13758SMDE13926
Do Class
DOID:630DOID:7
Dis Ge Net
C0001890C0014544C0014547C0014548C0014550C0014553C0016399C0017332C0022333C0036572C0086236C0086237C0086240C0086241C0149958C0220669C0234533C0234535C0234974C0236018C0238111C0270820C0270824C0270834C0270844C0270846C0270847C0270850C0270851C0270854C0270855C0311334C0338478C0338479C0347869C0393675C0393676C0393679C0393681C0393691C0393693C0393695C0393702C0393703C0422850C0422852C0422853C0422854C0422855C0438414C0494475C0748607C0751056C0751110C0751111C0751112C0751113C0751115C0751120C0751122C0751123C0751124C0751494C0751495C0751496C0751776C0751777C0751778C0751779C0751780C0751781C0751782C0751785C0752323C0752324C0795934C0917800C1832841C1842382C1842852C1843140C1851549C1852581C1853995C2675462C2676254C2677326C2751195C3149074C3149075C3150860C3495874C3502809C3807541C3809173C4021759C4048158C4085238C4225357C4225360C4273988C4281785C4310712C4310717C4310728C4316903C4317109C4317123C4317339C4505436C4518574C4551549C4551769C4552765C4553705
Orphanet
19351941194219492382306308317093242903306935258243921886814
Umls Sty
T033T046T047T184
Hpo Class
HP:0000707
Me Sh Class
C05C09C10C16C23F01F03
Etcm Disease
Benign Adult Familial Myoclonic EpilepsyBenign Familial Infantile EpilepsyBenign Familial Neonatal EpilepsyChildhood Absence EpilepsyDentatorubral-Pallidoluysian AtrophyEarly Myoclonic EncephalopathyEpilepsy, Familial Adult Myoclonic, 3Epileptic Encephalopathy, Early Infantile, 16Epileptic Encephalopathy, Early Infantile, 30Epileptic Encephalopathy, Early Infantile, 31Epileptic Encephalopathy, Early Infantile, 4Epileptic Encephalopathy, Early Infantile, 41Epileptic Encephalopathy, Early Infantile, 43Epileptic Encephalopathy, Early Infantile, 6Generalized Epilepsy with Febrile Seizures PlusLennox-Gastaut SyndromeMyoclonic-Astastic Epilepsy
Tcmbank Disease
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Itcmdb Generated
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Page Title
Disease Benign Adult Familial Myoclonic Epilepsy Details pageDisease Benign Familial Infantile Epilepsy Details pageDisease Benign Familial Neonatal Epilepsy Details pageDisease Childhood Absence Epilepsy Details pageDisease Dentatorubral-Pallidoluysian Atrophy Details pageDisease Early Myoclonic Encephalopathy Details pageDisease Epilepsy, Familial Adult Myoclonic, 3 Details pageDisease Epileptic Encephalopathy, Early Infantile, 16 Details pageDisease Epileptic Encephalopathy, Early Infantile, 30 Details pageDisease Epileptic Encephalopathy, Early Infantile, 31 Details pageDisease Epileptic Encephalopathy, Early Infantile, 4 Details pageDisease Epileptic Encephalopathy, Early Infantile, 41 Details pageDisease Epileptic Encephalopathy, Early Infantile, 43 Details pageDisease Epileptic Encephalopathy, Early Infantile, 6 Details pageDisease Generalized Epilepsy with Febrile Seizures Plus Details pageDisease Lennox-Gastaut Syndrome Details pageDisease Myoclonic-Astastic Epilepsy Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of the nervous system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Disease or SyndromeFindingPathologic FunctionSign or Symptom
Basic Information
Disease Name
Benign Adult Familial Myoclonic Epilepsy
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Benign Familial Infantile Epilepsy
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Benign Familial Neonatal Epilepsy
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Childhood Absence Epilepsy
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Dentatorubral-Pallidoluysian Atrophy
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Early Myoclonic Encephalopathy
Global Category
Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Epilepsy, Familial Adult Myoclonic, 3
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Epileptic Encephalopathy, Early Infantile, 16
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Epileptic Encephalopathy, Early Infantile, 30
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Epileptic Encephalopathy, Early Infantile, 31
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Epileptic Encephalopathy, Early Infantile, 4
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Epileptic Encephalopathy, Early Infantile, 41
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Epileptic Encephalopathy, Early Infantile, 43
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Epileptic Encephalopathy, Early Infantile, 6
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Ear diseases;Eye diseases;Gastrointestinal Diseases;Liver diseases;Mental diseases;Nephrological diseases;Neuronal diseases;Oral diseases
Disease Name
Generalized Epilepsy with Febrile Seizures Plus
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Lennox-Gastaut Syndrome
Global Category
Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Myoclonic-Astastic Epilepsy
Global Category
Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progBenign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of lifeEarly myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppressEarly-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at aroundHPO2016_07_04:A partial seizure characterized by impairment or loss of consciousness. [HPO:curators]HPO2016_07_04:A partial seizure in which consciousness is maintained. [HPO:probinson]HPO2016_07_04:A type of seizure characterized by laughing or an outburst of laughing as a major feature. [HPO:probinson]HPO2016_07_04:Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground . [HPO:jalbers, HPO:probinson]HPO2016_07_04:Seizures of with initial involvement of both cerebral hemispheres. [HPO:probinson]|CSP2006:clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells; clinical manifestations include abnormal motor, sensory and psychic phenomena; recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."HPO2016_07_04:Tonic seizures with a sustained, forced conjugate ocular, cephalic and/or truncal rotation or lateral deviation from the midline. [HPO:jalbers]Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epJABL99:Absence of distal phalanges and nails of fingers and toes, renal cystic dysplasia, dilated right ventricle of the brain, and other variable renal and cerebral anomalies.Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevaKCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of theLennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.MSH2017_2016_08_12:A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).|CSP2006:any form of epilepsy accompanied by myoclonus, shock like contractions of the muscle.MSH2017_2016_08_12:Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and NCI2016_02D:A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system.|MSH2017_2016_08_12:A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.NCI2016_02D:A rare, autosomal dominant inherited progressive neurodegenerative disorder. It is caused by a mutation in the ATN1 gene, resulting in a combined degeneration of the dentatorubral and pallidoluysian systems. It can appear at any age, but it usually affects individuals between 20 and 30 years and leads to death within 10-15 years. The clinical presentation depends on the age of the affected individual; juvenile patients develop severe progressive myoclonus epilepsy and cognitive decline, whereas adult patients develop ataxia, choreoathetosis and dementia.NCI2016_02D:A rare, genetically heterogeneous disorder caused by mutations in the SCN1A, GABRG2, GABRD, SCN9A, or STX1B genes. It is characterized by early childhood onset febrile seizures, generalized tonic-clonic seizures, absence seizures, myoclonic seizures, and atonic seizuresNCI2016_02D:A seizure caused by a localized disorder.|MSH2017_2016_08_12:Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)NCI2016_02D:An inherited or sporadic disorder characterized by epileptic seizures in the first four to six weeks of life. The seizures tend to subside after the fifteenth week of life.|MSH2017_2016_08_12:A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)NCI2016_FDA_1602D:A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.|NCI2016_02D:A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.|MSH2017_2016_08_12:A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur.|HPO2016_07_04:Focal seizures involving musculature in any form. [HPO:jalbers]NCI2016_FDA_1602D:A symptomatic form of epilepsy often preceded by an aura; characterized by loss of consciousness with generalized tonic- clonic seizures.|NCI2016_02D:A generalized tonic-clinic seizure, characterized by loss of consciousness. This type of seizure may be preceded by an aura and is frequently followed by a period of confusion and lethargy (post-ictal state).|HPO2016_07_04:Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena. [HPO:curators]NCI2016_FDA_1602D:The seizure seen in absence epilepsy, consisting of a sudden momentary break in consciousness of thought or activity, often accompanied by automatisms or clonic movements, especially of the eyelids.(CDRH)|NCI2016_02D:Generalized seizure that manifests in a form of a brief episode of impairment of consciousness with or without accompanying motor phenomena such as clonic-tonic components, automatisms, or autonomic components.|NCI2016_02D:Epilepsy characterized by very brief episodes of sudden cessation of activity, usually associated with eye blinking. There is no loss of the muscle tone.|MSH2017_2016_08_12:A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)|HPO2016_07_04:Typical absences are brief for seconds generalized epileptic seizures of abrupt onset and abrupt termination with impairment of consciousness. [HPO:jalbers]|HPO2016_07_04:Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures. [HPO:probinson]NCI2016_NICHD_1602D:A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills.|NCI2016_02D:A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills.Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mi
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesNervous System DiseasesNervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Nervous System Diseases
Umls Semantic Type Name
Disease or SyndromeFindingPathologic FunctionSign or Symptom