Phenotype #0000326569

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00436389
Associated disease	EIG
Phenotype details	At the age of 13 months, he had generalized seizure during hyperpyrexia. Eleven more episodes in subsequent years. EEG studies in asleep and awake and head MRI were normal. No further seizures reported after introduction of valproate.
Diagnosis/Initial	1y
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	24y
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Pietro Palumbo
Database submission license
Created by	Pietro Palumbo
Date created	2023-09-06 14:45:39 +02:00 (CEST)
Date last edited	2023-09-07 16:27:14 +02:00 (CEST)