Global Variome shared LOVD

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Phenotype #0000230193 Individual ID 00303109 Associated disease EE Phenotype details seizures atonic (2y), atypical absence, myoclonic jerks, non-convulsive status epilepticus, tonic, tonic-clonic; EEG generalised spike wave, generalised polyspike wave, diffuse slowing, single spike wave, generalised paroxysmal fast activity; development prior to seizures delayed; Severe intellectual disability, regression Diagnosis/Initial Lennox Gastaut syndrome Inheritance Isolated (sporadic) Diagnosis/Definite EIEE54 Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-06 19:15:13 +02:00 (CEST) Date last edited N/A

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