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144 Result(s)

ORPHA:505216   (Disorder)   3-methylglutaconic aciduria type 9

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Synonym(s) : 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome

ORPHA:435638   (Disorder)   3p25.3 microdeletion syndrome

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Synonym(s) : Intellectual disability-epilepsy-stereotypic hand movement syndrome

ORPHA:163696   (Disorder)   Action myoclonus-renal failure syndrome

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Synonym(s) : Progressive myoclonus epilepsy type 4

ORPHA:98260   (Group of disorders)   Adolescent-onset epilepsy syndrome

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ORPHA:1008   (Disorder)   Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

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Keyword(s) : Alopecia-epilepsy-pyorrhea-mental subnormality syndrome

ORPHA:1946   (Disorder)   Amelocerebrohypohidrotic syndrome

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Synonym(s) : Epilepsy-dementia-amelogenesis imperfecta syndrome

ORPHA:171714   (Disorder)   Amish infantile epilepsy syndrome

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Synonym(s) : Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

ORPHA:101046   (Disorder)   Autosomal dominant epilepsy with auditory features

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Synonym(s) : Partial epilepsy with auditory aura ; Partial epilepsy with auditory features ; Autosomal dominant lateral temporal lobe epilepsy

ORPHA:98784   (Disorder)   Autosomal dominant nocturnal frontal lobe epilepsy

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Synonym(s) : Autosomal dominant sleep-related hypermotor epilepsy

ORPHA:86814   (Disorder)   Benign adult familial myoclonic epilepsy

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Synonym(s) : Familial adult myoclonic epilepsy ; Benign adult familial myoclonus epilepsy ; Familial cortical myoclonic tremor and epilepsy ; Autosomal dominant cortical myoclonus and epilepsy

ORPHA:98816   (Subtype of disorder)   Benign childhood occipital epilepsy, Gastaut type

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Synonym(s) : Late-onset benign childhood occipital epilepsy

ORPHA:98815   (Subtype of disorder)   Benign childhood occipital epilepsy, Panayiotopoulos type

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Synonym(s) : Early-onset benign childhood occipital epilepsy

ORPHA:140927   (Disorder)   Benign familial neonatal-infantile seizures

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Synonym(s) : Benign neonatal-infantile epilepsy

ORPHA:25968   (Disorder)   Benign occipital epilepsy

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ORPHA:127   (Disorder)   Borjeson-Forssman-Lehmann syndrome

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Synonym(s) : Intellectual disability-epilepsy-endocrine disorders syndrome

ORPHA:166478   (Group of disorders)   Cerebral malformation with epilepsy

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ORPHA:182083   (Group of disorders)   Channelopathy with epilepsy

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ORPHA:64280   (Disorder)   Childhood absence epilepsy

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ORPHA:98259   (Group of disorders)   Childhood-onset epilepsy syndrome

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ORPHA:85278   (Disorder)   Christianson syndrome

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Synonym(s) : X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome

ORPHA:79095   (Disorder)   Congenital bile acid synthesis defect type 4

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Synonym(s) : Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

ORPHA:371071   (Group of disorders)   Congenital disorder of glycosylation with epilepsy as a major feature

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Synonym(s) : CDG with epilepsy as a major feature

ORPHA:329178   (Disorder)   Congenital muscular dystrophy with intellectual disability and severe epilepsy

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Synonym(s) : CMD with intellectual disability and severe epilepsy

ORPHA:79134   (Disorder)   DEND syndrome

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Synonym(s) : Developmental delay-epilepsy-neonatal diabetes syndrome

ORPHA:33069   (Disorder)   Dravet syndrome

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Synonym(s) : Severe myoclonus epilepsy of infancy

ORPHA:199343   (Disorder)   EAST syndrome

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Synonym(s) : Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome

ORPHA:411986   (Disorder)   Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

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Synonym(s) : Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

ORPHA:313772   (Disorder)   Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

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Synonym(s) : AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome

ORPHA:166418   (Disorder)   Eating reflex epilepsy

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Synonym(s) : Eating epilepsy

ORPHA:225696   (Group of disorders)   Energy metabolism disorder with epilepsy

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ORPHA:166463   (Group of disorders)   Epilepsy syndrome

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ORPHA:98820   (Disorder)   Familial focal epilepsy with variable foci

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Synonym(s) : Familial partial epilepsy with variable foci

ORPHA:352582   (Disorder)   Familial infantile myoclonic epilepsy

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Synonym(s) : Familial infantile myoclonus epilepsy

ORPHA:309   (Group of disorders)   Familial partial epilepsy

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ORPHA:98819   (Disorder)   Familial temporal lobe epilepsy

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ORPHA:101039   (Disorder)   Female restricted epilepsy with intellectual disability

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Keyword(s) : Epilepsy, female restricted, with mental retardation ; Familial epilepsy and mental retardation limited to females

ORPHA:352587   (Disorder)   Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

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Synonym(s) : Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

Keyword(s) : Focal epilepsy-mental retardation-dysarthria-ataxia syndrome ; Focal epilepsy-mental retardation-cerebro-cerebellar malformation syndrome

ORPHA:79097   (Disorder)   Folinic acid-responsive seizures

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Keyword(s) : Epilepsy

ORPHA:36387   (Disorder)   Generalized epilepsy with febrile seizures-plus

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Synonym(s) : Genetic epilepsy with febrile seizures-plus

ORPHA:2139   (Disorder)   Hernández-Aguirre Negrete syndrome

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Synonym(s) : Intellectual disability-epilepsy-bulbous nose syndrome

ORPHA:166412   (Disorder)   Hot water reflex epilepsy

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ORPHA:163985   (Disorder)   Hyperekplexia-epilepsy syndrome

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ORPHA:79101   (Disorder)   Hyperprolinemia type 2

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Keyword(s) : Epilepsy

ORPHA:86908   (Disorder)   Idiopathic hemiconvulsion-hemiplegia syndrome

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Synonym(s) : Hemiconvulsion-hemiplegia-epilepsy syndrome

ORPHA:98258   (Group of disorders)   Infantile epilepsy syndrome

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ORPHA:166490   (Group of disorders)   Infectious disease with epilepsy

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ORPHA:468620   (Disorder)   Intellectual disability-epilepsy-extrapyramidal syndrome

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Keyword(s) : Mental retardation-epilepsy-extrapyramidal syndrome

ORPHA:99989   (Subtype of disorder)   Intermediate DEND syndrome

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Synonym(s) : Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form

ORPHA:65683   (Disorder)   Isolated focal cortical dysplasia

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Synonym(s) : Epilepsy due to FCD

Keyword(s) : Drug-resistant epilepsy

ORPHA:268961   (Subtype of disorder)   Isolated focal cortical dysplasia type I

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Keyword(s) : Drug-resistant epilepsy

ORPHA:268994   (Subtype of disorder)   Isolated focal cortical dysplasia type II

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Keyword(s) : Drug-resistant epilepsy

ORPHA:269001   (Subtype of disorder)   Isolated focal cortical dysplasia type IIa

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Keyword(s) : Drug-resistant epilepsy

ORPHA:269008   (Subtype of disorder)   Isolated focal cortical dysplasia type IIb

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Keyword(s) : Drug-resistant epilepsy

ORPHA:268973   (Subtype of disorder)   Isolated focal cortical dysplasia type Ia

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Keyword(s) : Drug-resistant epilepsy

ORPHA:268980   (Subtype of disorder)   Isolated focal cortical dysplasia type Ib

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Keyword(s) : Drug-resistant epilepsy

ORPHA:268987   (Subtype of disorder)   Isolated focal cortical dysplasia type Ic

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Keyword(s) : Drug-resistant epilepsy

ORPHA:1941   (Disorder)   Juvenile absence epilepsy

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ORPHA:307   (Disorder)   Juvenile myoclonic epilepsy

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Synonym(s) : Juvenile myoclonus epilepsy

ORPHA:501   (Disorder)   Lafora disease

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Synonym(s) : Progressive myoclonus epilepsy type 2

ORPHA:225681   (Group of disorders)   Lysosomal disease with epilepsy

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ORPHA:551   (Disorder)   MERRF

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Synonym(s) : Myoclonus epilepsy associated with ragged-red fibres

ORPHA:293181   (Disorder)   Malignant migrating focal seizures of infancy

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Synonym(s) : Malignant migrating partial epilepsy of infancy ; Epilepsy of infancy with migrating focal seizures

ORPHA:166481   (Group of disorders)   Metabolic diseases with epilepsy

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ORPHA:457351   (Disorder)   Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

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Synonym(s) : Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Keyword(s) : Microcephaly-mental retardation-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

ORPHA:225700   (Group of disorders)   Mitochondrial disease with epilepsy

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ORPHA:166472   (Group of disorders)   Monogenic disease with epilepsy

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ORPHA:2574   (Disorder)   Moynahan syndrome

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Synonym(s) : Alopecia-epilepsy-intellectual disability syndrome, Moynahan type

ORPHA:86913   (Disorder)   Myoclonic epilepsy in non-progressive encephalopathies

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Synonym(s) : Myoclonus epilepsy in non-progressive encephalopathies

ORPHA:86909   (Disorder)   Myoclonic epilepsy of infancy

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Synonym(s) : Benign myoclonic epilepsy of infancy ; Benign myoclonus epilepsy of infancy

ORPHA:1942   (Disorder)   Myoclonic-astastic epilepsy

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Synonym(s) : Myoclonic atonic epilepsy ; Epilepsy with myoclonic-atonic seizures ; Epilepsy with myoclonic-astatic seizures ; Myoclonic-astatic epilepsy in early childhood

ORPHA:98257   (Group of disorders)   Neonatal epilepsy syndrome

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ORPHA:166466   (Group of disorders)   Neurocutaneous syndrome with epilepsy

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ORPHA:225713   (Group of disorders)   Other metabolic disease with epilepsy

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ORPHA:2798   (Disorder)   Pachygyria-intellectual disability-epilepsy syndrome

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Keyword(s) : Pachygyria-mental retardation-epilepsy syndrome

ORPHA:225686   (Group of disorders)   Peroxisomal disease with epilepsy

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ORPHA:166409   (Disorder)   Photosensitive epilepsy

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ORPHA:1947   (Disorder)   Progressive epilepsy-intellectual disability syndrome, Finnish type

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Synonym(s) : Northern epilepsy ; NCL, Northern epilepsy variant ; CLN8 disease, Northern epilepsy variant ; Neuronal ceroid lipofuscinosis, Northern epilepsy variant

Keyword(s) : Progressive epilepsy-mental retardation, Finnish type

ORPHA:98261   (Group of disorders)   Progressive myoclonic epilepsy

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Synonym(s) : Progressive myoclonus epilepsy

ORPHA:263516   (Subtype of disorder)   Progressive myoclonic epilepsy type 3

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Synonym(s) : Progressive myoclonus epilepsy type 3 ; Progressive myoclonic epilepsy due to KCTD7 deficiency

ORPHA:402082   (Disorder)   Progressive myoclonic epilepsy type 5

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Synonym(s) : Progressive myoclonus epilepsy type 5

ORPHA:280620   (Disorder)   Progressive myoclonic epilepsy type 6

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Synonym(s) : Progressive myoclonus epilepsy type 6 ; North Sea progressive myoclonus epilepsy

ORPHA:435438   (Disorder)   Progressive myoclonic epilepsy type 7

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Synonym(s) : Progressive myoclonus epilepsy type 7 ; Progressive myoclonic epilepsy due to KV3.1 deficiency ; Myoclonus epilepsy and ataxia due to potassium channel mutation

ORPHA:424027   (Disorder)   Progressive myoclonic epilepsy type 8

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Synonym(s) : Progressive myoclonus epilepsy type 8 ; Progressive myoclonic epilepsy due to CERS1 deficiency

ORPHA:457265   (Disorder)   Progressive myoclonic epilepsy type 9

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Synonym(s) : Progressive myoclonus epilepsy type 9 ; Progressive myoclonic epilepsy due to LMNB2 deficiency

ORPHA:352596   (Disorder)   Progressive myoclonic epilepsy with dystonia

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Synonym(s) : Progressive myoclonus epilepsy with dystonia

ORPHA:79096   (Disorder)   Pyridoxal phosphate-responsive seizures

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Keyword(s) : Epilepsy

ORPHA:3006   (Disorder)   Pyridoxine-dependent epilepsy

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ORPHA:101998   (Group of disorders)   Rare epilepsy

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ORPHA:183512   (Group of disorders)   Rare genetic epilepsy

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ORPHA:310   (Group of disorders)   Reflex epilepsy

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ORPHA:1945   (Disorder)   Rolandic epilepsy

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Synonym(s) : Centrotemporal epilepsy ; Benign rolandic epilepsy ; Benign epilepsy of childhood with centrotemporal spikes ; Benign familial epilepsy of childhood with rolandic spikes

ORPHA:94066   (Disorder)   Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

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Keyword(s) : Mental retardation, severe-epilepsy-anal anomalies-distal phalangeal hypoplasia syndrome

ORPHA:438178   (Disorder)   Severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency

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Synonym(s) : Severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency ; Severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder

Keyword(s) : Severe mental retardation-epilepsy-cataract syndrome due to FAR1 deficiency

ORPHA:2816   (Disorder)   Spastic paraplegia-epilepsy-intellectual disability syndrome

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Keyword(s) : Spastic paraplegia-epilepsy-mental retardation syndrome

ORPHA:371442   (Group of disorders)   Sphingolipidosis with epilepsy

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ORPHA:254881   (Disorder)   Spinocerebellar ataxia with epilepsy

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Synonym(s) : Mitochondrial spinocerebellar ataxia with epilepsy

ORPHA:166427   (Disorder)   Startle epilepsy

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ORPHA:225710   (Group of disorders)   Sterol metabolism disorder with epilepsy

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ORPHA:308   (Disorder)   Unverricht-Lundborg disease

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Synonym(s) : Progressive myoclonus epilepsy type 1

ORPHA:2076   (Group of disorders)   X-linked intellectual disability-epilepsy syndrome

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Keyword(s) : X-linked mental retardation-epilepsy syndrome

ORPHA:85319   (Disorder)   X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

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Keyword(s) : X-linked mental retardation-epilepsy-progressive joint contractures-dysmorphism syndrome

ORPHA:3175   (Disorder)   X-linked spasticity-intellectual disability-epilepsy syndrome

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Keyword(s) : Spasticity-mental retardation-X-linked epilepsy syndrome