Treceți la conținut
Folosiți fondurile HSA sau FSA

Condition report · Neurologice

Epilepsie

Un panel amplu de epilepsii ereditare și tulburări convulsive, de la epilepsiile generalizate și focale frecvente până la sindroame epileptice monogenice și encefalopatii epileptice și de dezvoltare.

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

Inclus în Premium și Premium + AI

Ce acoperă raportul dumneavoastră

Cele 5 afecțiuni analizate de noi

Epilepsie

O tulburare cerebrală caracterizată prin episoade de descărcare neuronală anormal de intensă, care duc la episoade tranzitorii de disfuncție neurologică senzorială sau motorie ori de disfuncție psihică. Aceste episoade pot fi sau nu asociate cu pierderea cunoștinței sau cu convulsii.

Gene analizate

Denumită și

seizure disorder

Include 360 subtipuri înrudite ↓
  • 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

Tulburare neurodezvoltamentală complexă legată de cromozomul X

O tulburare neurodezvoltamentală complexă, transmisă prin moștenire legată de cromozomul X, caracterizată prin deficiență intelectuală, autism și epilepsie.

Gene analizate

Include 2 subtipuri înrudite ↓
  • developmental and epileptic encephalopathy, 8
  • developmental and epileptic encephalopathy, 9
MONDO:0100148

Sindrom Rett atipic

O tulburare neurodezvoltamentală diagnosticată atunci când un copil prezintă un sindrom asemănător sindromului Rett, dar nu îndeplinește toate criteriile de diagnostic pentru sindromul Rett tipic (RTT clasic/tipic).

Gene analizate

Denumită și

atypical RTT; Rett like syndrome; Rett syndrome variant

Include 2 subtipuri înrudite ↓
  • developmental and epileptic encephalopathy, 2
  • FOXG1 disorder
MONDO:0017746Orphanet 3095MedGen 440664

Deficiență intelectuală, autozomal dominantă 42

Autozomal dominantă

Orice deficiență intelectuală autozomal dominantă în care cauza bolii este o mutație heterozigotă a genei GNB1. Se caracterizează prin întârziere globală a dezvoltării, deficiență intelectuală, hipotonie, anomalii structurale ale creierului și convulsii. Alte manifestări mai rare includ distonie, deficiență vizuală, probleme de comportament, întârziere a creșterii, malformații craniofaciale și anomalii genito-urinare la bărbați.

Gene analizate

Denumită și

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

Tulburare prin deficit de CDKL5

Dominantă legată de cromozomul X

O encefalopatie epileptică și de dezvoltare cauzată de variante ale genei CDKL5, cu crize convulsive care debutează în primele luni de viață și cu întârziere severă în dezvoltare.

Ce schimbă un diagnostic

Ganaxolona este aprobată de FDA pentru crizele convulsive asociate cu tulburarea prin deficit de CDKL5.

Gene analizate

Denumită și

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

Include 1 subtip înrudit ↓
  • developmental and epileptic encephalopathy, 2
MONDO:0100039

Alte conditions de neurologice

Toate condițiile →

Un test. Răspunsuri pentru o viață.

Un singur kit, trimis la domiciliul dumneavoastră. Întregul genom secvențiat la standardul clinic folosit pentru deciziile de diagnostic. Rapoarte pregătite pentru medic, livrate în Genome Manager în 6–8 săptămâni — permanente și actualizate pe măsură ce știința evoluează.

De la 449 $

Livrare gratuită · Rezultate în 6–8 săptămâni

Premium adaugă 99 $ per kit în primul an.

Comandați împreună cu Premium