OMIA group 344

Epilepsy

The chain reaches the human disease alopecia-epilepsy-pyorrhea-intellectual disability syndrome, which Mondo defines as: “Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.” It reaches 31 more human diseases, listed below.

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

Animal disease

Reached

OMIA records it in 12 species entries marked as a defect.
Human disease

Reached

32 Mondo diseases.
Human gene

Reached

1 human gene.
Target evidence

Reached

3 Open Targets associations, with a best score of 0.36.
Drugs

Reached

4 ChEMBL drugs, 2 approved. At least one has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

idiopathic generalized epilepsy

67.5 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.36	12.5 of 35
Drugs	A drug has reached phase 3 for this disease	20.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

Unverricht-Lundborg syndrome

66.3 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.32	11.3 of 35
Drugs	A drug has reached phase 3 for this disease	20.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

juvenile myoclonic epilepsy

60.3 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.01	0.3 of 35
Drugs	A drug has reached approved for this disease	25.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

MERRF syndrome

50.0 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	A drug has reached phase 2 for this disease	15.0 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

alopecia-epilepsy-pyorrhea-intellectual disability syndrome

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

amelocerebrohypohidrotic syndrome

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

ataxia with myoclonic epilepsy and presenile dementia

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

autosomal dominant nocturnal frontal lobe epilepsy 1

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

Borjeson-Forssman-Lehmann syndrome

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

celiac disease-epilepsy-cerebral calcification syndrome

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

deafness, congenital, and familial myoclonic epilepsy

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

dentatorubral-pallidoluysian atrophy

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

epilepsy, childhood absence, susceptibility to, 1

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

epilepsy, familial adult myoclonic, 1

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

epilepsy, familial temporal lobe, 1

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

epilepsy, focal, with speech disorder and with or without impaired intellectual development

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

epilepsy, photogenic, with spastic diplegia and impaired intellectual development

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

epilepsy-telangiectasia syndrome

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

Moynahan syndrome

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

myoclonic epilepsy, Hartung type

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

myoclonic epilepsy of Lafora 1

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

neuronal ceroid lipofuscinosis 8

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

photoparoxysmal response 1

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

Ramon syndrome

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

reading seizures

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

retinal degeneration and epilepsy

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

seizures, benign familial neonatal, 1

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

seizures, benign familial neonatal, 2

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

self-limited childhood occipital epilepsy

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

self-limited epilepsy with centrotemporal spikes

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

spastic paraplegia, epilepsy, and impaired intellectual development

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

spastic paraplegia with myoclonic epilepsy

37.5 out of 100

Part	Computed from	Points
Target evidence	No Open Targets association with this disease	0.0 of 35
Drugs	Drugs act on its genes, but no drug has been tested for this disease	2.5 of 25
Ortholog	One to one ortholog	20.0 of 20
Both routes	One route found this disease	5.0 of 10
Species	12 naturally occurring species entries marked as a defect	10.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species	Scientific name	OMIA entry	A defect
chicken	Gallus gallus	OMIA:000344-9031	Yes
dog	Canis lupus familiaris	OMIA:000344-9615	Yes
domestic cat	Felis catus	OMIA:000344-9685	Yes
domestic cattle	Bos taurus	OMIA:000344-9913	Yes
golden hamster	Mesocricetus auratus	OMIA:000344-10036	Yes
horse	Equus caballus	OMIA:000344-9796	Yes
Mongolian gerbil	Meriones unguiculatus	OMIA:000344-10047	Yes
pig	Sus scrofa	OMIA:000344-9823	Yes
prairie vole	Microtus ochrogaster	OMIA:000344-79684	Yes
rabbit	Oryctolagus cuniculus	OMIA:000344-9986	Yes
Ring-tailed lemur	Lemur catta	OMIA:000344-9447	Yes
white-tufted-ear marmoset	Callithrix jacchus	OMIA:000344-9483	Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species	Animal gene	Human gene	Ortholog
chicken	SV2A synaptic vesicle glycoprotein 2A NCBI Gene 101748017	SV2A Ensembl	one to one
dog	No gene	OMIA records no gene for this species entry.
domestic cat	No gene	OMIA records no gene for this species entry.
domestic cattle	No gene	OMIA records no gene for this species entry.
golden hamster	No gene	OMIA records no gene for this species entry.
horse	No gene	OMIA records no gene for this species entry.
Mongolian gerbil	No gene	OMIA records no gene for this species entry.
pig	No gene	OMIA records no gene for this species entry.
prairie vole	No gene	OMIA records no gene for this species entry.
rabbit	No gene	OMIA records no gene for this species entry.
Ring-tailed lemur	No gene	OMIA records no gene for this species entry.
white-tufted-ear marmoset	No gene	OMIA records no gene for this species entry.

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

OMIA's own Mondo link: OMIA links the group to no Mondo disease.
OMIA's OMIM numbers: found a disease.

Mondo disease	Name	Found by
MONDO:0007085	alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	OMIA's OMIM numbers
MONDO:0009185	amelocerebrohypohidrotic syndrome Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.	OMIA's OMIM numbers
MONDO:0008836	ataxia with myoclonic epilepsy and presenile dementia	OMIA's OMIM numbers
MONDO:0010899	autosomal dominant nocturnal frontal lobe epilepsy 1 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene.	OMIA's OMIM numbers
MONDO:0010537	Borjeson-Forssman-Lehmann syndrome A X-linked yndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.	OMIA's OMIM numbers
MONDO:0009187	celiac disease-epilepsy-cerebral calcification syndrome 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.	OMIA's OMIM numbers
MONDO:0009077	deafness, congenital, and familial myoclonic epilepsy	OMIA's OMIM numbers
MONDO:0007435	dentatorubral-pallidoluysian atrophy A progressive neurodegenerative disease caused by expanded CAG repeats in the ATN1 gene. It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cerebellar atrophy, and cognitive decline. Neuropathological changes consist of combined degeneration of the dentatorubral and pallidoluysian systems. Affected individuals mostly have heterozygous expanded CAG repeat units (usually with lengths of 48 tandem repeat units or more) in exon 5 of the ATN1 gene. Clinical presentation and onset depend on the size of the repeat due to the toxicity threshold of the expanded polyglutamine (polyQ) tract in the ATN1 gene product.	OMIA's OMIM numbers
MONDO:0020759	epilepsy, childhood absence, susceptibility to, 1	OMIA's OMIM numbers
MONDO:0010985	epilepsy, familial adult myoclonic, 1	OMIA's OMIM numbers
MONDO:0700090	epilepsy, familial temporal lobe, 1 An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.	OMIA's OMIM numbers
MONDO:0017325	epilepsy, focal, with speech disorder and with or without impaired intellectual development A rare intellectual disability and epilepsy syndrome due to mutation in GRIN2A gene. It is characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.	OMIA's OMIM numbers
MONDO:0009186	epilepsy, photogenic, with spastic diplegia and impaired intellectual development	OMIA's OMIM numbers
MONDO:0009188	epilepsy-telangiectasia syndrome Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.	OMIA's OMIM numbers
MONDO:0005579	idiopathic generalized epilepsy A generalised epilepsy that encompasses several common seizure phenotypes including childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. These epilepsy syndromes have polygenic inheritance with or without environmental factors contributing to seizure susceptibility. Seizure types include one or a combination of absence seizures, myoclonic seizures and/or generalized tonic-clonic seizures.	OMIA's OMIM numbers
MONDO:0009696	juvenile myoclonic epilepsy The most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).	OMIA's OMIM numbers
MONDO:0010790	MERRF syndrome A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy.	OMIA's OMIM numbers
MONDO:0008755	Moynahan syndrome A Mendelian disease characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.	OMIA's OMIM numbers
MONDO:0008041	myoclonic epilepsy, Hartung type	OMIA's OMIM numbers
MONDO:0958199	myoclonic epilepsy of Lafora 1 Any Lafora disease in which the cause of the disease is a variation in the EPM2A gene.	OMIA's OMIM numbers
MONDO:0010830	neuronal ceroid lipofuscinosis 8 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.	OMIA's OMIM numbers
MONDO:0007559	photoparoxysmal response 1	OMIA's OMIM numbers
MONDO:0009954	Ramon syndrome	OMIA's OMIM numbers
MONDO:0007560	reading seizures A rare reflex epilepsy characterized by reading-induced seizures which in most cases present with orofacial/jaw myoclonus possibly extending to the upper limbs but can also manifest as dyslexia or alexia and visual symptoms. In both variants secondary generalized tonic-clonic seizures may evolve if the stimulus is not interrupted. The disease typically begins in the second or third decade of life and may be inherited in an autosomal dominant pattern. It usually takes a benign course with little tendency to spontaneous seizures.	OMIA's OMIM numbers
MONDO:0009976	retinal degeneration and epilepsy	OMIA's OMIM numbers
MONDO:0007365	seizures, benign familial neonatal, 1 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene.	OMIA's OMIM numbers
MONDO:0007366	seizures, benign familial neonatal, 2 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.	OMIA's OMIM numbers
MONDO:0007558	self-limited childhood occipital epilepsy A rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes.	OMIA's OMIM numbers
MONDO:0007295	self-limited epilepsy with centrotemporal spikes A childhood-onset epilepsy syndrome 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.	OMIA's OMIM numbers
MONDO:0008439	spastic paraplegia, epilepsy, and impaired intellectual development	OMIA's OMIM numbers
MONDO:0010048	spastic paraplegia with myoclonic epilepsy	OMIA's OMIM numbers
MONDO:0009698	Unverricht-Lundborg syndrome 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 mild cognitive decline over time.	OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene	Human disease	Score	Evidence	Kinds of evidence
SV2A	idiopathic generalized epilepsy	0.36	11	Known drug 0.58 Literature 0.10
SV2A	Unverricht-Lundborg syndrome	0.32	3	Known drug 0.53 Literature 0.01
SV2A	juvenile myoclonic epilepsy	0.01	2	Literature 0.06 Known drug 0.01

Drugs

A drug acts on SV2A and has been tested for this disease.

Drug	Acts on	How	Latest stage	Tested for this disease
Brivaracetam	SV2A	modulator	Approved	Phase 3 for Unverricht-Lundborg syndrome
Levetiracetam	SV2A	modulator	Approved	Phase 3 for idiopathic generalized epilepsy
Padsevonil	SV2A	modulator	Phase 3	No
Seletracetam	SV2A	modulator	Phase 3	No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.