Sleep-related hypermotor epilepsy
ORPHA:98784DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CHRNA4 | cholinergic receptor nicotinic alpha 4 subunit | Disease-causing germline mutation(s) in | gene with protein product | 118504 |
| CHRNA2 | cholinergic receptor nicotinic alpha 2 subunit | Disease-causing germline mutation(s) in | gene with protein product | 118502 |
| CHRNB2 | cholinergic receptor nicotinic beta 2 subunit | Disease-causing germline mutation(s) in | gene with protein product | 118507 |
| KCNT1 | potassium sodium-activated channel subfamily T member 1 | Disease-causing germline mutation(s) in | gene with protein product | 608167 |
| DEPDC5 | DEP domain containing 5, GATOR1 subcomplex subunit | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614191 |
| CRH | corticotropin releasing hormone | Disease-causing germline mutation(s) in | gene with protein product | 122560 |
| CABP4 | calcium binding protein 4 | Disease-causing germline mutation(s) in | gene with protein product | 608965 |
Фенотипы (HPO)22
Очень частый (80–99%)1
HP:0031951Nocturnal seizures
Частый (30–79%)3
HP:0000733Abnormal repetitive mannerisms
HP:0002268Paroxysmal dystonia
HP:0004305Involuntary movements
Периодический (5–29%)12
HP:0000020Urinary incontinence
HP:0000716Depression
HP:0000739Anxiety
HP:0002883Hyperventilation
HP:0011174Hyperkinetic seizures
HP:0011182Interictal epileptiform activity
HP:0011193EEG with focal spikes
HP:0025236Somnambulism
HP:0025237Confusional arousal
HP:0031535Increased theta frequency activity in EEG
HP:0031589Suicidal ideation
HP:0100543Cognitive impairment
Очень редкий (1–4%)6
HP:0000708Atypical behavior
HP:0001256Intellectual disability, mild
HP:0001345Psychotic mentation
HP:0002069Bilateral tonic-clonic seizure
HP:0007018Attention deficit hyperactivity disorder
HP:0025235Non-rapid eye movement parasomnia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Family(ies) |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)