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Condition report · Nevrologisk

Epilepsi

Et bredt panel av arvelige epilepsier og anfallssykdommer, fra vanlige generaliserte og fokale epilepsier til epilepsisyndromer forårsaket av enkeltgener og utviklingsrelaterte epileptiske encefalopatier.

A condition report looks for rare variants known to cause the conditions it covers.

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Epilepsi

En hjernesykdom preget av episoder med unormalt økt nevronal aktivitet som gir forbigående sanse- eller bevegelsesforstyrrelser eller psykiske forstyrrelser. Disse episodene kan være forbundet med bevissthetstap eller kramper, eller ikke.

Analyserte gener

Også kjent som

seizure disorder

Inkluderer 360 beslektede undertyper ↓
  • acquired developmental and epileptic encephalopathy
  • acquired sleep-related hypermotor epilepsy
  • action myoclonus-renal failure syndrome
  • acute encephalopathy with biphasic seizures and late reduced diffusion
  • adolescence-adult electroclinical syndrome
  • antibody mediated epilepsy
  • atypical childhood epilepsy with centrotemporal spikes
  • audiogenic seizures
  • autoimmune epilepsy
  • autosomal dominant epilepsy with auditory features
  • autosomal dominant nocturnal frontal lobe epilepsy 1
  • autosomal dominant nocturnal frontal lobe epilepsy 2
  • autosomal dominant nocturnal frontal lobe epilepsy 3
  • autosomal dominant nocturnal frontal lobe epilepsy 4
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
  • autosomal recessive spinocerebellar ataxia 12
  • autosomal recessive spinocerebellar ataxia 15
  • benign adult familial myoclonic epilepsy
  • benign familial infantile epilepsy
  • benign familial neonatal-infantile seizures 1
  • benign focal seizures of adolescence
  • benign idiopathic neonatal seizures
  • benign infantile focal epilepsy with midline spikes and wave during sleep
  • benign infantile seizures associated with mild gastroenteritis
  • benign neonatal seizures
  • benign non-familial infantile seizures
  • benign partial epilepsy of infancy with complex partial seizures
  • benign partial epilepsy with secondarily generalized seizures in infancy
  • benign partial infantile seizures
  • childhood absence epilepsy
  • childhood occipital visual epilepsy
  • childhood onset GLUT1 deficiency syndrome 2
  • childhood-onset epilepsy syndrome
  • childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy
  • childhood-onset genetic generalized epilepsy syndrome
  • childhood-onset idiopathic generalized epilepsy syndrome
  • childhood-onset self-limited focal epilepsy syndrome
  • combined generalized and focal epilepsy
  • complex partial epilepsy
  • congenital myasthenic syndrome 18
  • cryptogenic late-onset epileptic spasms
  • developmental and epileptic encephalopathy
  • developmental and epileptic encephalopathy 100
  • developmental and epileptic encephalopathy 101
  • developmental and epileptic encephalopathy 102
  • developmental and epileptic encephalopathy 103
  • developmental and epileptic encephalopathy 104
  • developmental and epileptic encephalopathy 105 with hypopituitarism
  • developmental and epileptic encephalopathy 106
  • developmental and epileptic encephalopathy 107
  • developmental and epileptic encephalopathy 108
  • developmental and epileptic encephalopathy 109
  • developmental and epileptic encephalopathy 110
  • developmental and epileptic encephalopathy 111
  • developmental and epileptic encephalopathy 112
  • developmental and epileptic encephalopathy 113
  • developmental and epileptic encephalopathy 114
  • developmental and epileptic encephalopathy 115
  • developmental and epileptic encephalopathy 116
  • developmental and epileptic encephalopathy 118
  • developmental and epileptic encephalopathy 119
  • developmental and epileptic encephalopathy 120
  • developmental and epileptic encephalopathy 121
  • developmental and epileptic encephalopathy 6B
  • developmental and epileptic encephalopathy 89
  • developmental and epileptic encephalopathy 91
  • developmental and epileptic encephalopathy 92
  • developmental and epileptic encephalopathy 93
  • developmental and epileptic encephalopathy 94
  • developmental and epileptic encephalopathy 96
  • developmental and epileptic encephalopathy 97
  • developmental and epileptic encephalopathy 98
  • developmental and epileptic encephalopathy 99
  • developmental and epileptic encephalopathy, 1
  • developmental and epileptic encephalopathy, 11
  • developmental and epileptic encephalopathy, 12
  • developmental and epileptic encephalopathy, 13
  • developmental and epileptic encephalopathy, 14
  • developmental and epileptic encephalopathy, 15
  • developmental and epileptic encephalopathy, 16
  • developmental and epileptic encephalopathy, 17
  • developmental and epileptic encephalopathy, 18
  • developmental and epileptic encephalopathy, 19
  • developmental and epileptic encephalopathy, 2
  • developmental and epileptic encephalopathy, 21
  • developmental and epileptic encephalopathy, 23
  • developmental and epileptic encephalopathy, 24
  • developmental and epileptic encephalopathy, 25
  • developmental and epileptic encephalopathy, 26
  • developmental and epileptic encephalopathy, 27
  • developmental and epileptic encephalopathy, 28
  • developmental and epileptic encephalopathy, 29
  • developmental and epileptic encephalopathy, 3
  • developmental and epileptic encephalopathy, 30
  • developmental and epileptic encephalopathy, 31A
  • developmental and epileptic encephalopathy, 31B
  • developmental and epileptic encephalopathy, 32
  • developmental and epileptic encephalopathy, 33
  • developmental and epileptic encephalopathy, 34
  • developmental and epileptic encephalopathy, 35
  • developmental and epileptic encephalopathy, 36
  • developmental and epileptic encephalopathy, 37
  • developmental and epileptic encephalopathy, 38
  • developmental and epileptic encephalopathy, 39
  • developmental and epileptic encephalopathy, 4
  • developmental and epileptic encephalopathy, 40
  • developmental and epileptic encephalopathy, 41
  • developmental and epileptic encephalopathy, 42
  • developmental and epileptic encephalopathy, 43
  • developmental and epileptic encephalopathy, 44
  • developmental and epileptic encephalopathy, 45
  • developmental and epileptic encephalopathy, 46
  • developmental and epileptic encephalopathy, 47
  • developmental and epileptic encephalopathy, 48
  • developmental and epileptic encephalopathy, 49
  • developmental and epileptic encephalopathy, 5
  • developmental and epileptic encephalopathy, 50
  • developmental and epileptic encephalopathy, 51
  • developmental and epileptic encephalopathy, 52
  • developmental and epileptic encephalopathy, 53
  • developmental and epileptic encephalopathy, 54
  • developmental and epileptic encephalopathy, 55
  • developmental and epileptic encephalopathy, 56
  • developmental and epileptic encephalopathy, 57
  • developmental and epileptic encephalopathy, 58
  • developmental and epileptic encephalopathy, 59
  • developmental and epileptic encephalopathy, 60
  • developmental and epileptic encephalopathy, 61
  • developmental and epileptic encephalopathy, 62
  • developmental and epileptic encephalopathy, 63
  • developmental and epileptic encephalopathy, 64
  • developmental and epileptic encephalopathy, 65
  • developmental and epileptic encephalopathy, 66
  • developmental and epileptic encephalopathy, 67
  • developmental and epileptic encephalopathy, 68
  • developmental and epileptic encephalopathy, 69
  • developmental and epileptic encephalopathy, 6A
  • developmental and epileptic encephalopathy, 7
  • developmental and epileptic encephalopathy, 70
  • developmental and epileptic encephalopathy, 71
  • developmental and epileptic encephalopathy, 72
  • developmental and epileptic encephalopathy, 73
  • developmental and epileptic encephalopathy, 74
  • developmental and epileptic encephalopathy, 75
  • developmental and epileptic encephalopathy, 76
  • developmental and epileptic encephalopathy, 77
  • developmental and epileptic encephalopathy, 78
  • developmental and epileptic encephalopathy, 79
  • developmental and epileptic encephalopathy, 8
  • developmental and epileptic encephalopathy, 80
  • developmental and epileptic encephalopathy, 81
  • developmental and epileptic encephalopathy, 82
  • developmental and epileptic encephalopathy, 83
  • developmental and epileptic encephalopathy, 84
  • developmental and epileptic encephalopathy, 85, with or without midline brain defects
  • developmental and epileptic encephalopathy, 86
  • developmental and epileptic encephalopathy, 87
  • developmental and epileptic encephalopathy, 88
  • developmental and epileptic encephalopathy, 9
  • developmental and epileptic encephalopathy, 90
  • developmental and/or epileptic encephalopathy with spike-wave activation in sleep
  • DNM1-encephalopathy and neurodevelopmental disorder
  • Dravet syndrome
  • early-infantile DEE
  • early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
  • early-onset Lafora body disease
  • eating seizures
  • encephalopathy due to GLUT1 deficiency
  • epilepsy syndrome
  • epilepsy with auditory features
  • epilepsy with eyelid myoclonia
  • epilepsy with generalized tonic-clonic seizures
  • epilepsy with myoclonic absences
  • epilepsy with myoclonic atonic seizures
  • epilepsy, early-onset, vitamin B6-dependent
  • epilepsy, familial adult myoclonic
  • epilepsy, familial adult myoclonic, 1
  • epilepsy, familial adult myoclonic, 2
  • epilepsy, familial adult myoclonic, 3
  • epilepsy, familial adult myoclonic, 4
  • epilepsy, familial adult myoclonic, 5
  • epilepsy, familial adult myoclonic, 6
  • epilepsy, familial adult myoclonic, 7
  • epilepsy, familial focal, with variable foci 1
  • epilepsy, familial focal, with variable foci 2
  • epilepsy, familial focal, with variable foci 3
  • epilepsy, familial focal, with variable foci 4
  • epilepsy, familial temporal lobe, 1
  • epilepsy, hot water, 1
  • epilepsy, hot water, 2
  • epilepsy, idiopathic generalized 20
  • epilepsy, progressive myoclonic, 11
  • epilepsy, progressive myoclonic, 12
  • epilepsy, progressive myoclonic, 1B
  • epilepsy, unknown whether focal or generalized
  • epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
  • epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
  • epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
  • extratemporal epilepsy
  • familial encephalopathy with neuroserpin inclusion bodies
  • familial focal epilepsy with variable foci
  • familial infantile myoclonic epilepsy
  • familial mesial temporal lobe epilepsy
  • familial partial epilepsy
  • familial sleep-related hypermotor epilepsy
  • familial temporal lobe epilepsy 2
  • familial temporal lobe epilepsy 3
  • familial temporal lobe epilepsy 4
  • familial temporal lobe epilepsy 5
  • familial temporal lobe epilepsy 6
  • familial temporal lobe epilepsy 7
  • familial temporal lobe epilepsy 8
  • febrile infection-related epilepsy syndrome
  • febrile seizures, familial, 8
  • focal epilepsy
  • focal epilepsy-intellectual disability-cerebro-cerebellar malformation
  • folinic acid-responsive seizures
  • frontal lobe epilepsy
  • generalized epilepsy
  • generalized epilepsy with febrile seizures plus
  • generalized epilepsy with febrile seizures plus, type 1
  • generalized epilepsy with febrile seizures plus, type 10
  • generalized epilepsy with febrile seizures plus, type 12
  • generalized epilepsy with febrile seizures plus, type 2
  • generalized epilepsy with febrile seizures plus, type 4
  • generalized epilepsy with febrile seizures plus, type 6
  • generalized epilepsy with febrile seizures plus, type 7
  • generalized epilepsy with febrile seizures plus, type 8
  • generalized epilepsy with febrile seizures plus, type 9
  • generalized epilepsy-paroxysmal dyskinesia syndrome
  • genetic developmental and epileptic encephalopathy
  • genetic epilepsy with febrile seizures plus spectrum
  • genetic generalized epilepsy
  • GLUT1 deficiency syndrome
  • glycosylphosphatidylinositol biosynthesis defect 18
  • GRIN2A-related developmental and/or epileptic encephalopathy with spike-wave activation in sleep
  • GRIN2A-related rolandic epilepsy-speech dyspraxia syndrome
  • GRIN2A-related self-limited epilepsy with centrotemporal spikes
  • hemiplegic migraine-developmental and epileptic encephalopathy spectrum
  • hereditary generalized epilepsy
  • hot water reflex epilepsy
  • idiopathic generalized epilepsy
  • idiopathic hemiconvulsion-hemiplegia syndrome
  • immune epilepsy
  • infant epilepsy with migrant focal crisis
  • infantile convulsions and choreoathetosis
  • infantile epilepsy syndrome
  • infantile spasms
  • infantile spasms-broad thumbs syndrome
  • infantile-onset epilepsy
  • infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
  • inherited reflex epilepsy
  • intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
  • intellectual disability, autosomal dominant 5
  • juvenile absence epilepsy
  • juvenile myoclonic epilepsy
  • Lafora disease
  • Landau-Kleffner syndrome
  • Lennox-Gastaut syndrome
  • malignant migrating partial seizures of infancy
  • MERRF syndrome
  • mesial temporal lobe epilepsy with hippocampal sclerosis
  • metabolic epilepsy
  • microcephaly micropenis convulsions
  • microcephaly sparse hair intellectual disability seizures
  • microcephaly, seizures, and developmental delay
  • micturation-induced seizures
  • monogenic epilepsy
  • Mowat-Wilson syndrome
  • Mowat-Wilson syndrome due to a ZEB2 point mutation
  • Mowat-Wilson syndrome due to monosomy 2q22
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • myoclonic encephalopathy in non-progressive disorder
  • myoclonic epilepsy
  • myoclonic epilepsy in infancy
  • myoclonic epilepsy in non-progressive encephalopathies
  • myoclonic epilepsy of Lafora 1
  • myoclonic epilepsy of Lafora 2
  • myoclonic epilepsy, Hartung type
  • myoclonic epilepsy, juvenile, 2
  • neonatal epilepsy syndrome
  • neonatal-onset developmental and epileptic encephalopathy
  • neonatal-onset encephalopathy with rigidity and seizures
  • neonatal/infantile epilepsy syndrome
  • neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy
  • neonatal/infantile-onset self-limited epilepsy syndrome
  • neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
  • neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
  • neuronal ceroid lipofuscinosis 8 northern epilepsy variant
  • new-onset refractory status epilepticus
  • non-neonatal early infantile epileptic encephalopathy
  • orgasm-induced seizures
  • partial motor epilepsy
  • partial sensory epilepsy
  • perioral myoclonia with absences
  • photoparoxysmal response 1
  • photoparoxysmal response 2
  • photoparoxysmal response 3
  • photosensitive epilepsy
  • photosensitive occipital lobe epilepsy
  • polyhydramnios, megalencephaly, and symptomatic epilepsy
  • post-traumatic epilepsy
  • primary motor cortex epilepsy
  • progressive myoclonic epilepsy type 3
  • progressive myoclonic epilepsy type 6
  • progressive myoclonic epilepsy type 7
  • progressive myoclonic epilepsy type 8
  • progressive myoclonic epilepsy type 9
  • progressive myoclonic epilepsy with dystonia
  • progressive myoclonus epilepsy
  • pyridoxal phosphate-responsive seizures
  • pyridoxine-dependent epilepsy
  • pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
  • Rasmussen subacute encephalitis
  • reading seizures
  • reflex epilepsy
  • rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
  • rolandic epilepsy-speech dyspraxia syndrome
  • rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
  • seizures, benign familial infantile, 2
  • seizures, benign familial infantile, 3
  • seizures, benign familial infantile, 4
  • seizures, benign familial infantile, 5
  • seizures, benign familial neonatal, 1
  • seizures, benign familial neonatal, 2
  • seizures, benign familial neonatal, 3
  • seizures, benign familial neonatal, autosomal recessive
  • self-limited childhood occipital epilepsy
  • self-limited epilepsy with autonomic seizures
  • self-limited epilepsy with centrotemporal spikes
  • self-limited familial infantile epilepsy
  • self-limited familial neonatal epilepsy
  • self-limited familial neonatal-infantile epilepsy
  • self-limited neonatal seizures
  • severe neonatal-onset encephalopathy with microcephaly
  • simple partial epilepsy
  • SLC35A2-congenital disorder of glycosylation
  • sleep-related hypermotor epilepsy
  • spastic paraplegia-severe developmental delay-epilepsy syndrome
  • spinocerebellar ataxia, autosomal recessive 23
  • startle epilepsy
  • structural epilepsy
  • Sunflower syndrome
  • syndromic X-linked intellectual disability Hedera type
  • tactile epilepsy
  • temporal lobe epilepsy
  • THG1L-related epileptic encephalopathy
  • thinking seizures
  • TMEM63B-related developmental and epileptic encephalopathy with anemia
  • undetermined early-onset epileptic encephalopathy
  • Unverricht-Lundborg syndrome
  • variable age epilepsy syndrome
  • variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration
  • variable-age onset combined generalized and focal epilepsy syndrome
  • variable-age onset focal epilepsy syndrome
  • variable-age onset idiopathic generalized epilepsy syndrome
  • visual epilepsy
  • X-linked dominant intellectual disability-epilepsy syndrome
  • X-linked intellectual disability-epilepsy syndrome
MONDO:0005027MedGen 4506

Atypisk Rett-syndrom

En nevroutviklingsforstyrrelse som diagnostiseres når et barn har et Rett-lignende syndrom, men ikke oppfyller alle diagnosekriteriene for typisk Rett-syndrom (klassisk/typisk RTT).

Analyserte gener

Også kjent som

atypical RTT; Rett like syndrome; Rett syndrome variant

Inkluderer 2 beslektede undertyper ↓
  • developmental and epileptic encephalopathy, 2
  • FOXG1 disorder
MONDO:0017746Orphanet 3095MedGen 440664

Intellektuell funksjonsnedsettelse, autosomal dominant 42

Autosomal dominant

Enhver autosomal dominant intellektuell funksjonsnedsettelse der årsaken er en heterozygot mutasjon i genet GNB1. Den kjennetegnes av generell utviklingsforsinkelse, intellektuell funksjonsnedsettelse, nedsatt muskelspenning, strukturelle avvik i hjernen og anfall. Andre, mindre vanlige funn inkluderer dystoni, synsnedsettelse, atferdsproblemer, veksthemming, craniofaciale defekter og genitourinære avvik hos menn.

Analyserte gener

Også kjent som

autosomal dominant intellectual disability 42; autosomal dominant non-syndromic intellectual disability 42; autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1; global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome; GNB1 autosomal dominant non-syndromic intellectual disability; GNB1-related disorder; GNB1-related neurodevelopmental disorder; intellectual developmental disorder, autosomal dominant 42; intellectual disability, autosomal dominant type 42; mental retardation, autosomal dominant 42; mental retardation, autosomal dominant type 42; MRD42

MONDO:0014855OMIM 616973Orphanet 488613MedGen 934741

CDKL5 Deficiency Disorder

X-bundet dominant

En utviklings- og epileptisk encefalopati forårsaket av varianter i CDKL5, med anfall som starter i de første levemånedene og alvorlig forsinket utvikling.

Hva en diagnose endrer

Ganaxolon er godkjent av FDA for anfall assosiert med CDKL5 Deficiency Disorder.

Analyserte gener

Også kjent som

CDKL5; CDKL5 Deficiency Disorder; CDKL5 inherited genetic disease; CDKL5-related disorder; inherited genetic disease caused by mutation in CDKL5

Inkluderer 1 beslektet undertype ↓
  • developmental and epileptic encephalopathy, 2
MONDO:0100039

Andre nevrologisk conditions

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