Northern epilepsy
ORPHA:1947Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)7
HP:0000505Visual impairment
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001272Cerebellar atrophy
HP:0002540Inability to walk
HP:0003204Intracellular accumulation of autofluorescent lipopigment storage material
HP:0003657Granular osmiophilic deposits (GROD) in cells
Частый (30–79%)23
HP:0000529Progressive visual loss
HP:0000543Optic disc pallor
HP:0000550Undetectable electroretinogram
HP:0000750Delayed speech and language development
HP:0001251Ataxia
HP:0002059Cerebral atrophy
HP:0002066Gait ataxia
HP:0002123Generalized myoclonic seizure
HP:0002167Abnormality of speech or vocalization
HP:0002312Clumsiness
HP:0002317Unsteady gait
HP:0002333Motor deterioration
HP:0002371Loss of speech
HP:0002510Spastic tetraplegia
HP:0003205Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
HP:0003208Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
HP:0003698Difficulty standing
HP:0005268Spontaneous abortion
HP:0011198EEG with generalized epileptiform discharges
HP:0011203EEG with abnormally slow frequencies
HP:0030455Abnormality of pattern visual evoked potentials
HP:0033044Motor regression
HP:0100543Cognitive impairment
Периодический (5–29%)10
HP:0011471Gastrostomy tube feeding in infancy
HP:0012690T2 hypointense thalamus
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0000708Atypical behavior
HP:0000726Dementia
HP:0000729Autistic behavior
HP:0001263Global developmental delay
HP:0002015Dysphagia
HP:0002359Frequent falls
HP:0002384Focal impaired awareness seizure
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)