Self-limited epilepsy with centrotemporal spikes
ORPHA:1945DiseaseAutosomal dominantChildhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GABRG2 | gamma-aminobutyric acid type A receptor subunit gamma2 | Disease-causing germline mutation(s) in | gene with protein product | 137164 |
| GRIN2A | glutamate ionotropic receptor NMDA type subunit 2A | Disease-causing germline mutation(s) in | gene with protein product | 138253 |
| SRPX2 | sushi repeat containing protein X-linked 2 | Candidate gene tested in | gene with protein product | 300642 |
Фенотипы (HPO)21
Очень частый (80–99%)1
HP:0012557EEG with centrotemporal focal spike waves
Частый (30–79%)7
HP:0002307Drooling
HP:0007332Focal hemifacial clonic seizure
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0007359Focal-onset seizure
HP:0009088Speech articulation difficulties
HP:0010535Sleep apnea
HP:0025425Laryngospasm
Периодический (5–29%)11
HP:0000712Emotional lability
HP:0000716Depression
HP:0000736Short attention span
HP:0000739Anxiety
HP:0001328Specific learning disability
HP:0002076Migraine
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0003401Paresthesia
HP:0006889Intellectual disability, borderline
HP:0007018Attention deficit hyperactivity disorder
HP:0012534Dysesthesia
Очень редкий (1–4%)2
HP:0001326EEG with irregular generalized spike and wave complexes
HP:0007270Atypical absence seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Annual incidence | 1-5 / 10 000 | 20 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)