Global Variome shared LOVD

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Phenotype #0000310956 Individual ID 00419675 Associated disease epilepsy Phenotype details 10m-onset seizures, focal dyscognitive seizures, febrile seizures; focal dyscognitive seizures, febrile seizures, focal motor seizures, possible extension spasms; 4y-seizure-free; EEG onset normal; EEG focal sharp waves; EEG 2y-sharp waves, spike-waves, polyspike-waves over both centro-temporal regions, independently or bilaterally synchronous (left more than right), increase during sleep; mild ataxia, myoclonus at rest in hand/fingers; learning disability, delayed speech development; MRI brain normal Diagnosis/Initial Dravet syndrome Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset 00y10m Phenotype/Onset seizures Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-21 10:04:47 +02:00 (CEST) Date last edited 2022-10-21 10:17:16 +02:00 (CEST)

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