Global Variome shared LOVD

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Phenotype #0000338711 Individual ID 00449536 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details plasma glutamine normal; cerebrospinal fluid glutamine normal; 6m-epilepsy, tonic, myoclonic, generalized tonic-clonic seizure; epilepsy type combined focal and generalized; developmental and epileptic encephalopathy; EEG several generalized tonic-clonic seizure captured, multifocal discharges, encephalopathic background; seizures daily; treatment response refractory; global developmental delay; MRI demyelination/hypomyelination Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-04-19 18:53:48 +02:00 (CEST) Date last edited N/A

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