Juvenile myoclonic epilepsy

ORPHA:307DiseaseMultigenic/multifactorialAdolescent, Childhood

Ассоциированные гены8

Ген	Полное название	Тип связи	Тип гена	OMIM
CILK1	ciliogenesis associated kinase 1	Major susceptibility factor in	gene with protein product	612325
CACNB4	calcium voltage-gated channel auxiliary subunit beta 4	Major susceptibility factor in	gene with protein product	601949
GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	Major susceptibility factor in	gene with protein product	137160
EFHC1	EF-hand domain containing 1	Major susceptibility factor in	gene with protein product	608815
GABRD	gamma-aminobutyric acid type A receptor subunit delta	Major susceptibility factor in	gene with protein product	137163
KCNQ3	potassium voltage-gated channel subfamily Q member 3	Major susceptibility factor in	gene with protein product	602232
JRK	Jrk helix-turn-helix protein	Candidate gene tested in	gene with protein product	603210
CLCN2	chloride voltage-gated channel 2	Major susceptibility factor in	gene with protein product	600570

Очень частый (80–99%)3

HP:0002197Generalized-onset seizure

HP:0002392EEG with polyspike wave complexes

HP:0007000Morning myoclonic jerks

Частый (30–79%)2

HP:0000153Abnormality of the mouth

HP:0000496Abnormality of eye movement

Периодический (5–29%)3

HP:0002121Generalized non-motor (absence) seizure

HP:0002373Febrile seizure (within the age range of 3 months to 6 years)

HP:0007207Photosensitive tonic-clonic seizures

Очень редкий (1–4%)2

HP:0000718Aggressive behavior

HP:0002133Status epilepticus

Исключён (0%)1

HP:0001249Intellectual disability

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	Unknown	—	Worldwide	Class only
Point prevalence	1-9 / 100 000	1.7	Norway	Value and class

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)