Early infantile developmental and epileptic encephalopathy
ORPHA:1934Clinical syndromeAutosomal dominant, Autosomal recessive, Not applicable, X-linked recessiveNeonatal
Ассоциированные гены20
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DMXL2 | Dmx like 2 | Disease-causing germline mutation(s) in | gene with protein product | 612186 |
| GRIN1 | glutamate ionotropic receptor NMDA type subunit 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 138249 |
| SLC32A1 | solute carrier family 32 member 1 | Disease-causing germline mutation(s) in | gene with protein product | 616440 |
| RHOBTB2 | Rho related BTB domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 607352 |
| CACNA1E | calcium voltage-gated channel subunit alpha1 E | Disease-causing germline mutation(s) in | gene with protein product | 601013 |
| NEUROD2 | neuronal differentiation 2 | Disease-causing germline mutation(s) in | gene with protein product | 601725 |
| GRM7 | glutamate metabotropic receptor 7 | Disease-causing germline mutation(s) in | gene with protein product | 604101 |
| CASK | calcium/calmodulin dependent serine protein kinase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300172 |
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 182390 |
| CDKL5 | cyclin dependent kinase like 5 | Disease-causing germline mutation(s) in | gene with protein product | 300203 |
| ARX | aristaless related homeobox | Disease-causing germline mutation(s) in | gene with protein product | 300382 |
| PNKP | polynucleotide kinase 3'-phosphatase | Disease-causing germline mutation(s) in | gene with protein product | 605610 |
| GNAO1 | G protein subunit alpha o1 | Disease-causing germline mutation(s) in | gene with protein product | 139311 |
| PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605754 |
| SIK1 | salt inducible kinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 605705 |
| SCN1B | sodium voltage-gated channel beta subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 600235 |
| SLC25A22 | solute carrier family 25 member 22 | Disease-causing germline mutation(s) in | gene with protein product | 609302 |
| KCNA1 | potassium voltage-gated channel subfamily A member 1 | Disease-causing germline mutation(s) in | gene with protein product | 176260 |
| TRIM8 | tripartite motif containing 8 | Disease-causing germline mutation(s) in | gene with protein product | 606125 |
| PIGP | phosphatidylinositol glycan anchor biosynthesis class P | Disease-causing germline mutation(s) in | gene with protein product | 605938 |
Фенотипы (HPO)63
Облигатный (100%)1
HP:0001250Seizure
Очень частый (80–99%)5
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002123Generalized myoclonic seizure
HP:0011153Focal motor seizure
HP:0200134Epileptic encephalopathy
Частый (30–79%)13
HP:0001254Lethargy
HP:0001347Hyperreflexia
HP:0002015Dysphagia
HP:0002033Poor suck
HP:0002205Recurrent respiratory infections
HP:0002353EEG abnormality
HP:0002360Sleep abnormality
HP:0002421Poor head control
HP:0002521Hypsarrhythmia
HP:0008947Floppy infant
HP:0010851EEG with burst suppression
HP:0011167Focal tonic seizure
HP:0011968Feeding difficulties
Периодический (5–29%)26
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0001257Spasticity
HP:0001266Choreoathetosis
HP:0001272Cerebellar atrophy
HP:0001302Pachygyria
HP:0001336Myoclonus
HP:0001337Tremor
HP:0002069Bilateral tonic-clonic seizure
HP:0002079Hypoplasia of the corpus callosum
HP:0002121Generalized non-motor (absence) seizure
HP:0002131Episodic ataxia
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002376Developmental regression
HP:0002506Diffuse cerebral atrophy
HP:0007204Diffuse white matter abnormalities
HP:0007359Focal-onset seizure
HP:0010818Generalized tonic seizure
HP:0010819Atonic seizure
HP:0010850EEG with spike-wave complexes
HP:0011169Generalized clonic seizure
HP:0011190Uni- and bilateral multifocal epileptiform discharges
HP:0012448Delayed myelination
HP:0012469Infantile spasms
HP:0100660Dyskinesia
HP:0100716Self-injurious behavior
Очень редкий (1–4%)18
HP:0000054Micropenis
HP:0000070Ureterocele
HP:0000110Renal dysplasia
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000340Sloping forehead
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000826Precocious puberty
HP:0001332Dystonia
HP:0001500Broad finger
HP:0001508Failure to thrive
HP:0001537Umbilical hernia
HP:0001629Ventricular septal defect
HP:0005280Depressed nasal bridge
HP:0009381Short finger
HP:0010174Broad phalanx of the toes
HP:0012554Absent thumbnail
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2 | United Kingdom | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)