Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Refractory generalized convulsive epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Seizure disorder as sequela of stroke |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
An epileptic seizure originating within networks limited to one hemisphere with retained awareness (defined as knowledge of self and environment) throughout the entire duration of the seizure. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
epilessia con assenza generalizzata primaria |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Intractable simple partial epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Intractable absence seizures |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Intractable partial temporal lobe epilepsy with impairment of consciousness |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Refractory complex partial seizure with impairment of consciousness |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A type of familial frontal lobe epilepsy where individuals present with clusters of motor seizures occurring from sleep, with usual onset in the first two decades of life, typically in adolescence (eleven to fourteen years). Focal motor seizures have hyperkinetic features or asymmetric tonic/dystonic features, usually with autonomic signs, vocalization, and negative emotional expression such as fear. Seizures are brief, with abrupt onset/offset, and there is often preserved awareness during the seizure. Individuals may describe a focal aware sensory or cognitive seizure before the motor features commence. Development and cognition are typically normal. Neurological examination is normal. The electroencephalogram (EEG) background is typically normal. The awake EEG is non epileptiform in most patients. During sleep, interictal epileptiform abnormalities are seen over the frontal areas in approximately 50% of patients. Neuroimaging is usually normal. There is a family history of sleep-related hypermotor epilepsy. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Generalized non-convulsive absence epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Refractory juvenile myoclonic epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Refractory myoclonic epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
état de mal épileptique postopératoire |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Post infectious grand mal epilepsy (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Post-cerebrovascular accident epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Genetic epilepsy with febrile seizures plus |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Progressive myoclonus epilepsy with ataxia (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Eclampsia with pre-existing hypertension in childbirth |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy in mother complicating childbirth (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy in mother complicating pregnancy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Complete partial seizure of uncertain origin |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Single seizure |
Is a |
False |
Seizure |
Inferred relationship |
Some |
|
Spinal muscular atrophy with progressive myoclonic epilepsy (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Infantile spasms co-occurrent with status epilepticus |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Status epilepticus due to generalized idiopathic epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Refractory idiopathic generalized epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Status epilepticus due to intractable idiopathic generalized epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Refractory infantile spasms co-occurrent with status epilepticus |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Status epilepticus due to refractory epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Status epilepticus due to refractory simple partial epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Status epilepticus due to refractory complex partial seizures |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Implementation of seizure management regime |
Has focus |
True |
Seizure |
Inferred relationship |
Some |
1 |
épilepsie pariétale partielle réfractaire avec altération de la conscience |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Partial epileptic seizure of frontal lobe with impairment of consciousness |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Intractable partial occipital lobe epilepsy with impairment of consciousness |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Intractable partial frontal lobe epilepsy with impairment of consciousness |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Partial epileptic seizure of parietal lobe with impairment of consciousness |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Partial epileptic seizure of occipital lobe with impairment of consciousness |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Partial epileptic seizure of temporal lobe with impairment of consciousness |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Status epilepticus due to complex partial epileptic seizure |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterised by the occurrence of seizures during the first year of life and choreoathetotic dyskinetic attacks during childhood or adolescence. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Benign focal seizure of adolescence (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A type of epilepsy that presents between 2 and 14 years of age with the triad of frequent eyelid myoclonia, with or without absences, induced by eye closure and photic stimulation. Eyelid myoclonia is often most prominent on awakening. Generalized tonic-clonic seizures occur in the majority of cases but are usually infrequent. The electroencephalogram shows bursts of 3 to 6 Hz generalized spike-wave or polyspike-and-wave which are often triggered by eye closure and/or photic stimulation, with a normal background. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
X-linked epilepsy-learning disabilities-behaviour disorders syndrome is characterised by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
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-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
GM3 synthase deficiency is a rare congenital disorder of glycosylation due to impaired synthesis of complex ganglioside species initially characterized by irritability, poor feeding, failure to thrive and early-onset refractory epilepsy, followed by postnatal growth impairment, severe developmental delay or developmental regression, profound intellectual disability, deafness and abnormalities of skin pigmentation (mostly freckle-like hyperpigmented and depigmented macules). Visual impairment due to cortical atrophy (visible on magnetic resonance imaging), choreoathetosis and hypotonic tetraparesis usually appear gradually. Dysmorphic facial features may be associated. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Aphasia co-occurrent with epilepsy |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A type of epilepsy characterised by frequent epileptiform activity associated with developmental slowing and often regression on the background of previously normal development. In this type of epilepsy the frequent seizures and/or epileptiform discharges, rather than underlying aetiology is thought to be the only cause of developmental impairment. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Perceptual disturbances and seizures co-occurrent and due to alcohol withdrawal (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy co-occurrent and due to dementia |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Pyridoxal 5-phosphate dependent epilepsy (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy due to perinatal stroke |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy due to perinatal anoxic-ischemic brain injury (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy due to cerebrovascular accident (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy due to and following traumatic brain injury |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy due to intracranial neoplasm |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy co-occurrent and due to degenerative brain disorder (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy co-occurrent and due to mesial temporal sclerosis (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy due to immune disorder (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy co-occurrent and due to demyelinating disorder (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy due to infectious disease of central nervous system (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A rare genetic progressive myoclonic epilepsy characterized by childhood onset of progressive dysarthria, myoclonus, ataxia, seizures, and cognitive decline. The disease takes a protracted course with patients surviving into adulthood, developing signs and symptoms like psychosis with outbursts of prolonged agitation and screaming, spasticity and hyperreflexia, confusion, mutism, and incontinence. There are no visual disturbances. Muscle biopsy shows numerous periodic acid-Schiff-positive inclusions, so-called Lafora bodies. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epileptic dementia with behavioral disturbance |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Epilepsy of infancy with migrating focal seizures |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Pyridoxine-dependent epilepsy (disorder) |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
épilepsie partielle complexe récidivante |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
épilepsie partielle réfractaire idiopathique |
Has definitional manifestation |
False |
Seizure |
Inferred relationship |
Some |
|
Seizure co-occurrent and due to drug withdrawal |
Is a |
False |
Seizure |
Inferred relationship |
Some |
|
Seizure disorder |
Is a |
True |
Seizure |
Inferred relationship |
Some |
|
No seizure seen |
Associated finding |
True |
Seizure |
Inferred relationship |
Some |
1 |
Seizure detected only via continuous EEG (electroencephalogram) with no external manifestations. |
Is a |
True |
Seizure |
Inferred relationship |
Some |
|
Seizure due to migraine with aura (finding) |
Is a |
True |
Seizure |
Inferred relationship |
Some |
|
Traumatic injury due to seizure |
Due to |
True |
Seizure |
Inferred relationship |
Some |
1 |
A sudden paroxysm of abnormal motor and/or non-motor phenomenon with or without electrographic correlate, or a neonatal electrographic-only seizure (without clinical correlate) that occurs during the period from birth until 44 weeks postmenstrual age. |
Is a |
True |
Seizure |
Inferred relationship |
Some |
|
History of seizure (situation) |
Associated finding |
True |
Seizure |
Inferred relationship |
Some |
1 |