Familial or sporadic hemiplegic migraine
ORPHA:569DiseaseAutosomal dominantChildhood
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCN1A | sodium voltage-gated channel alpha subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 182389 |
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | Disease-causing germline mutation(s) in | gene with protein product | 601011 |
| ATP1A2 | ATPase Na+/K+ transporting subunit alpha 2 | Disease-causing germline mutation(s) in | gene with protein product | 182340 |
| PRRT2 | proline rich transmembrane protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 614386 |
Фенотипы (HPO)51
Очень частый (80–99%)6
HP:0001324Muscle weakness
HP:0002077Migraine with aura
HP:0002167Abnormality of speech or vocalization
HP:0002353EEG abnormality
HP:0011153Focal motor seizure
HP:0011157Focal sensory seizure
Частый (30–79%)23
HP:0032900Focal manual automatism seizure
HP:0032901Focal pedal automatism seizure
HP:0200149CSF lymphocytic pleiocytosis
HP:0000365Hearing impairment
HP:0000575Scotoma
HP:0000651Diplopia
HP:0001260Dysarthria
HP:0001269Hemiparesis
HP:0001289Confusion
HP:0001308Tongue fasciculations
HP:0002172Postural instability
HP:0002181Cerebral edema
HP:0002321Vertigo
HP:0002922Increased CSF protein concentration
HP:0003401Paresthesia
HP:0004305Involuntary movements
HP:0007240Progressive gait ataxia
HP:0010835Dissociated sensory loss
HP:0011172Complex febrile seizure
HP:0011468Facial tics
HP:0012229CSF pleocytosis
HP:0012508Metamorphopsia
HP:0030786Photopsia
Периодический (5–29%)17
HP:0000360Tinnitus
HP:0001259Coma
HP:0001272Cerebellar atrophy
HP:0002301Hemiplegia
HP:0002381Aphasia
HP:0002463Language impairment
HP:0007209Facial paralysis
HP:0007979Gaze-evoked horizontal nystagmus
HP:0008959Distal upper limb muscle weakness
HP:0010544Vertical nystagmus
HP:0010829Impaired temperature sensition
HP:0010833Spontaneous pain sensation
HP:0011199EEG with generalized sharp slow waves
HP:0012044Seesaw nystagmus
HP:0031179Nuchal rigidity
HP:0032044Decreased vigilance
HP:0032506Alien limb phenomenon
Очень редкий (1–4%)5
HP:0001249Intellectual disability
HP:0002133Status epilepticus
HP:0003392First dorsal interossei muscle weakness
HP:0011196EEG with focal sharp waves
HP:0100576Amaurosis fugax
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 10 | Denmark | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)