Global Variome shared LOVD

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Phenotype #0000338707 Individual ID 00449532 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details plasma glutamine borderline low; cerebrospinal fluid glutamine normal; ammonia normal; cerebrospinal fluid neurotransmitters normal; 8m-epilepsy, focal, generalized; epilepsy type combined focal and generalized; likely developmental and epileptic encephalopathy; EEG focal electroclinical seizure, persistent hemispheric asymmetry, no interictal epileptiform features; seizures 1-6 per week; treatment response ketogenic diet; global developmental delay; MRI prominent perivascular spaces, thinning corpus callosum, 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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