Phenotype #0000310957

Individual ID 00419676
Associated disease epilepsy
Phenotype details 8m-onset seizures, febrile status epilepticus; febrile seizures, focal motor seizures, secondary generalized tonic-clonic seizures; 15y-seizure-free; EEG onset sharp waves, bilateral centro-temporo-frontal spikes; 4y-EEG multifocal epileptiform discharges activated by sleep; 17y-EEG normal; moderate intellectual disability, delayed speech development; MRI brain normal; severe scoliosis
Diagnosis/Initial adult epileptic encephalopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset 00y08m
Phenotype/Onset seizures
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-10-21 10:04:47 +02:00 (CEST)
Date last edited 2022-10-21 10:21:15 +02:00 (CEST)

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