Global Variome shared LOVD

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Phenotype #0000351159 Individual ID 00465616 Associated disease epilepsy Phenotype details see paper; ..., mother febrile seizures; uncle febrile seizures, epileptic encephalopathy with continuous spike-waves in sleep; 2 brothers epileptic encephalopathy with continuous spike-waves in sleep; sister childhood epilepsy with centrotemporal spikes Diagnosis/Initial epilepsy-aphasia spectrum Inheritance Familial, X-linked dominant Diagnosis/Definite MRXSHG Age/Examination - 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 2025-05-27 19:12:26 +02:00 (CEST) Date last edited N/A

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