Global Variome shared LOVD

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Phenotype #0000318786 Individual ID 00427812 Associated disease EE Phenotype details gestational diabetes (insulin), hypertension; birth at term, C-section; seizures multifocal myoclonic, generalized myoclonic; 8m-infantile spasms, responsive to pyridoxine, 3y-myoclonic, 4y-myoclonic/tonic, later atonic, generalized tonic-clonic, now refractory; EEG multifocal sharp waves, generalized spike-wave to hypsarrhythmia to pattern of Lennox-Gastaut syndrome (multifocal spikes, runs of slow spike-wave, generalized spike-wave bursts and periods of diffuse supression); epileptic encephalopathy, acquired microcephaly (<2nd percentile); severe delay with episodic regression; nonverbal, limited comprehension; hypotonia, with increased ankle tone; incoordination, gait instability Diagnosis/Initial West syndrome Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 00y00m70d 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 2022-12-13 13:34:17 +01:00 (CET) Date last edited 2022-12-13 13:42:25 +01:00 (CET)

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