Landau-Kleffner syndrome
ORPHA:98818DiseaseAutosomal dominant, UnknownChildhood
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)8
HP:0001250Seizure
HP:0002371Loss of speech
HP:0002381Aphasia
HP:0002463Language impairment
HP:0011098Speech apraxia
HP:0025373Interictal EEG abnormality
HP:0030391Spoken Word Recognition Deficit
HP:0031491Continuous spike and waves during slow sleep
Частый (30–79%)12
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0002121Generalized non-motor (absence) seizure
HP:0002376Developmental regression
HP:0007018Attention deficit hyperactivity disorder
HP:0007086Social and occupational deterioration
HP:0009088Speech articulation difficulties
HP:0011153Focal motor seizure
HP:0011198EEG with generalized epileptiform discharges
HP:0012015EEG with frontal focal spikes
HP:0012018EEG with temporal focal spikes
HP:0025190Bilateral tonic-clonic seizure with generalized onset
Периодический (5–29%)22
HP:0000712Emotional lability
HP:0000716Depression
HP:0000718Aggressive behavior
HP:0000736Short attention span
HP:0000739Anxiety
HP:0000752Hyperactivity
HP:0001350Slurred speech
HP:0002066Gait ataxia
HP:0002069Bilateral tonic-clonic seizure
HP:0002300Mutism
HP:0002354Memory impairment
HP:0002359Frequent falls
HP:0002360Sleep abnormality
HP:0002384Focal impaired awareness seizure
HP:0003376Steppage gait
HP:0003698Difficulty standing
HP:0007270Atypical absence seizure
HP:0011166Focal myoclonic seizure
HP:0011169Generalized clonic seizure
HP:0031951Nocturnal seizures
HP:0032671Non-convulsive status epilepticus without coma
HP:0100710Impulsivity
Очень редкий (1–4%)2
HP:0030057Autoimmune antibody positivity
HP:0200134Epileptic encephalopathy
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.4 | Japan | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)