Non-specific early-onset epileptic encephalopathy
ORPHA:442835DiseaseAutosomal dominant, Autosomal recessive, Not applicable, X-linked recessiveInfancy, Neonatal
Ассоциированные гены54
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ACTL6B | actin like 6B | Disease-causing germline mutation(s) in | gene with protein product | 612458 |
| GABRG2 | gamma-aminobutyric acid type A receptor subunit gamma2 | Disease-causing germline mutation(s) in | gene with protein product | 137164 |
| GABRA2 | gamma-aminobutyric acid type A receptor subunit alpha2 | Disease-causing germline mutation(s) in | gene with protein product | 137140 |
| FZR1 | fizzy and cell division cycle 20 related 1 | Disease-causing germline mutation(s) in | gene with protein product | 603619 |
| GABRA5 | gamma-aminobutyric acid type A receptor subunit alpha5 | Disease-causing germline mutation(s) in | gene with protein product | 137142 |
| PACS2 | phosphofurin acidic cluster sorting protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 610423 |
| YWHAG | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Disease-causing germline mutation(s) in | gene with protein product | 605356 |
| UBA5 | ubiquitin like modifier activating enzyme 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610552 |
| GRIN2D | glutamate ionotropic receptor NMDA type subunit 2D | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 602717 |
| DALRD3 | DALR anticodon binding domain containing 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 618904 |
| TRAK1 | trafficking kinesin protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608112 |
| SLC1A2 | solute carrier family 1 member 2 | Disease-causing germline mutation(s) in | gene with protein product | 600300 |
| AP3B2 | adaptor related protein complex 3 subunit beta 2 | Disease-causing germline mutation(s) in | gene with protein product | 602166 |
| ATP6V1A | ATPase H+ transporting V1 subunit A | Disease-causing germline mutation(s) in | gene with protein product | 607027 |
| SCN3A | sodium voltage-gated channel alpha subunit 3 | Disease-causing germline mutation(s) in | gene with protein product | 182391 |
| GABRB2 | gamma-aminobutyric acid type A receptor subunit beta2 | Disease-causing germline mutation(s) in | gene with protein product | 600232 |
| CLTC | clathrin heavy chain | Disease-causing germline mutation(s) in | gene with protein product | 118955 |
| DEPDC5 | DEP domain containing 5, GATOR1 subcomplex subunit | Disease-causing germline mutation(s) in | gene with protein product | 614191 |
| NUS1 | NUS1 dehydrodolichyl diphosphate synthase subunit | Disease-causing germline mutation(s) in | gene with protein product | 610463 |
| CYFIP2 | cytoplasmic FMR1 interacting protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 606323 |
| FBXO28 | F-box protein 28 | Disease-causing germline mutation(s) in | gene with protein product | 609100 |
| NTRK2 | neurotrophic receptor tyrosine kinase 2 | Disease-causing germline mutation(s) in | gene with protein product | 600456 |
| KCNC2 | potassium voltage-gated channel subfamily C member 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 176256 |
| KCNH5 | potassium voltage-gated channel subfamily H member 5 | Disease-causing germline mutation(s) in | gene with protein product | 605716 |
| SLC38A3 | solute carrier family 38 member 3 | Disease-causing germline mutation(s) in | gene with protein product | 604437 |
| FGF12 | fibroblast growth factor 12 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 601513 |
| SZT2 | SZT2 subunit of KICSTOR complex | Disease-causing germline mutation(s) in | gene with protein product | 615463 |
| CELF2 | CUGBP Elav-like family member 2 | Disease-causing germline mutation(s) in | gene with protein product | 602538 |
| DHDDS | dehydrodolichyl diphosphate synthase subunit | Disease-causing germline mutation(s) in | gene with protein product | 608172 |
| PPP3CA | protein phosphatase 3 catalytic subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 114105 |
| SYNJ1 | synaptojanin 1 | Disease-causing germline mutation(s) in | gene with protein product | 604297 |
| FOXG1 | forkhead box G1 | Disease-causing germline mutation(s) in | gene with protein product | 164874 |
| SYNGAP1 | synaptic Ras GTPase activating protein 1 | Candidate gene tested in | gene with protein product | 603384 |
| SCN1A | sodium voltage-gated channel alpha subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 182389 |
| AARS1 | alanyl-tRNA synthetase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601065 |
| SCN8A | sodium voltage-gated channel alpha subunit 8 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600702 |
| NECAP1 | NECAP endocytosis associated 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611623 |
| HCN1 | hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 602780 |
| SLC13A5 | solute carrier family 13 member 5 | Disease-causing germline mutation(s) in | gene with protein product | 608305 |
| KCNB1 | potassium voltage-gated channel subfamily B member 1 | Disease-causing germline mutation(s) in | gene with protein product | 600397 |
| DNM1 | dynamin 1 | Disease-causing germline mutation(s) in | gene with protein product | 602377 |
| KCNA2 | potassium voltage-gated channel subfamily A member 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 176262 |
| KCNA2 | potassium voltage-gated channel subfamily A member 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 176262 |
| EEF1A2 | eukaryotic translation elongation factor 1 alpha 2 | Disease-causing germline mutation(s) in | gene with protein product | 602959 |
| CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | Disease-causing germline mutation(s) in | gene with protein product | 300724 |
| PARS2 | prolyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) in | gene with protein product | 612036 |
| UFSP2 | UFM1 specific peptidase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611482 |
| ATP1A2 | ATPase Na+/K+ transporting subunit alpha 2 | Disease-causing germline mutation(s) in | gene with protein product | 182340 |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | Disease-causing germline mutation(s) in | gene with protein product | 182350 |
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 607340 |
| CACNA1B | calcium voltage-gated channel subunit alpha1 B | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601012 |
| CDK19 | cyclin dependent kinase 19 | Disease-causing germline mutation(s) in | gene with protein product | 614720 |
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | Disease-causing germline mutation(s) in | gene with protein product | 601011 |
| CACNA2D1 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Disease-causing germline mutation(s) in | gene with protein product | 114204 |
Фенотипы (HPO)48
Очень частый (80–99%)1
HP:0001298Encephalopathy
Частый (30–79%)10
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001265Hyporeflexia
HP:0001290Generalized hypotonia
HP:0001508Failure to thrive
HP:0002376Developmental regression
HP:0010844EEG with multifocal slow activity
HP:0011443Abnormality of coordination
Периодический (5–29%)31
HP:0000252Microcephaly
HP:0000348High forehead
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000639Nystagmus
HP:0000668Hypodontia
HP:0000708Atypical behavior
HP:0000717Autism
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001268Mental deterioration
HP:0001273Abnormal corpus callosum morphology
HP:0001288Gait disturbance
HP:0001315Reduced tendon reflexes
HP:0001336Myoclonus
HP:0001337Tremor
HP:0001558Decreased fetal movement
HP:0002020Gastroesophageal reflux
HP:0002059Cerebral atrophy
HP:0002063Rigidity
HP:0002317Unsteady gait
HP:0002421Poor head control
HP:0002521Hypsarrhythmia
HP:0004305Involuntary movements
HP:0004322Short stature
HP:0007018Attention deficit hyperactivity disorder
HP:0011968Feeding difficulties
HP:0012444Brain atrophy
HP:0012447Abnormal myelination
HP:0100660Dyskinesia
HP:0100710Impulsivity
Очень редкий (1–4%)6
HP:0000504Abnormality of vision
HP:0000546Retinal degeneration
HP:0000648Optic atrophy
HP:0002133Status epilepticus
HP:0002509Limb hypertonia
HP:0012547Abnormal involuntary eye movements
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)