Familial adult myoclonic epilepsy

ORPHA:86814DiseaseAutosomal dominantAll ages

Ассоциированные гены8

Ген	Полное название	Тип связи	Тип гена	OMIM
SAMD12	sterile alpha motif domain containing 12	Disease-causing germline mutation(s) in	gene with protein product	618073
TNRC6A	trinucleotide repeat containing adaptor 6A	Disease-causing germline mutation(s) in	gene with protein product	610739
RAPGEF2	Rap guanine nucleotide exchange factor 2	Disease-causing germline mutation(s) in	gene with protein product	609530
YEATS2	YEATS domain containing 2	Disease-causing germline mutation(s) in	gene with protein product	613373
CTNND2	catenin delta 2	Disease-causing germline mutation(s) in	gene with protein product	604275
CNTN2	contactin 2	Disease-causing germline mutation(s) in	gene with protein product	190197
ADRA2B	adrenoceptor alpha 2B	Disease-causing germline mutation(s) (gain of function) in	gene with protein product	104260
MARCHF6	membrane associated ring-CH-type finger 6	Disease-causing germline mutation(s) in	gene with protein product	613297

Очень частый (80–99%)3

HP:0001336Myoclonus

HP:0002353EEG abnormality

HP:0002378Hand tremor

Частый (30–79%)2

HP:0002197Generalized-onset seizure

HP:0007359Focal-onset seizure

Периодический (5–29%)3

HP:0001249Intellectual disability

HP:0002315Headache

HP:0100576Amaurosis fugax

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	1-9 / 100 000	2.8	Japan	Value and class
Point prevalence	Unknown	—	Worldwide	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)