Global Variome shared LOVD

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Phenotype #0000310959 Individual ID 00419678 Associated disease epilepsy Phenotype details 5m-onset seizures, febrile status epilepticus; generalized tonic-clonic seizures, absences; generalized tonic-clonic seizures once a year on lamotrigine; 6y-EEG generalized spike waves and polyspike-waves; moderate-severe ataxia, hyperreflexia; moderate intellectual disability; MRI brain normal Diagnosis/Initial ataxia, epilepsy Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset 00y05m 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 10:27:44 +02:00 (CEST)

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