Epilepsy with myoclonic-atonic seizures
ORPHA:1942DiseaseUnknownChildhood
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC2A1 | solute carrier family 2 member 1 | Disease-causing germline mutation(s) in | gene with protein product | 138140 |
| SYNGAP1 | synaptic Ras GTPase activating protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 603384 |
| NEXMIF | neurite extension and migration factor | Disease-causing germline mutation(s) in | gene with protein product | 300524 |
| SCN1A | sodium voltage-gated channel alpha subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 182389 |
| CHD2 | chromodomain helicase DNA binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 602119 |
| SLC6A1 | solute carrier family 6 member 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 137165 |
| AP2M1 | adaptor related protein complex 2 subunit mu 1 | Disease-causing germline mutation(s) in | gene with protein product | 601024 |
Фенотипы (HPO)44
Очень частый (80–99%)2
HP:0011170Myoclonic atonic seizures
HP:0011197EEG with focal spike waves
Частый (30–79%)9
HP:0010819Atonic seizure
HP:0025190Bilateral tonic-clonic seizure with generalized onset
HP:0000752Hyperactivity
HP:0001249Intellectual disability
HP:0002121Generalized non-motor (absence) seizure
HP:0002123Generalized myoclonic seizure
HP:0002332Lack of peer relationships
HP:0002392EEG with polyspike wave complexes
HP:0007018Attention deficit hyperactivity disorder
Периодический (5–29%)10
HP:0000729Autistic behavior
HP:0001251Ataxia
HP:0001326EEG with irregular generalized spike and wave complexes
HP:0001337Tremor
HP:0010845EEG with generalized slow activity
HP:0011171Simple febrile seizures
HP:0011182Interictal epileptiform activity
HP:0100851Abnormal emotion/affect behavior
HP:0410263Brain imaging abnormality
HP:0012760Reduced social responsiveness
Очень редкий (1–4%)22
HP:0001159Syndactyly
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0002292Frontal balding
HP:0002317Unsteady gait
HP:0007256Abnormal pyramidal sign
HP:0007359Focal-onset seizure
HP:0009928Thick nasal alae
HP:0011220Prominent forehead
HP:0100678Premature skin wrinkling
HP:0200134Epileptic encephalopathy
HP:0000154Wide mouth
HP:0000179Thick lower lip vermilion
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000289Broad philtrum
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000568Microphthalmia
HP:0000750Delayed speech and language development
Исключён (0%)1
HP:0011097Epileptic spasm
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)