Global Variome shared LOVD

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Phenotype #0000230180 Individual ID 00303096 Associated disease EE Phenotype details seizures atypical absence (12m), atonic, myoclonic jerks, non-convulsive status epilepticus, status epilepticus, tonic, tonic-clonic; EEG single spike wave, multi-focal discharges, diffuse slowing, generalised polyspike wave, PPR triggered myoclonic jerks; development prior to seizures delayed; severe intellectual disability, regression Diagnosis/Initial Lennox Gastaut syndrome Inheritance Isolated (sporadic) Diagnosis/Definite EEOC Age/Examination 29y (29 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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