Phenotype #0000310953

Individual ID	00419672
Associated disease	epilepsy
Phenotype details	17m-onset seizures, febrile seizures, hemiclonic seizures; myoclonic seizures, focal dyscognitive seizures, focal motor seizures, secondary generalized tonic-clonic seizures; 7y6m-seizure-free; EEG onset focal sharp waves; EEG multifocal sharp waves and sharp slow waves, accentuated over left frontocentral region with significant increase during sleep; mild-moderate ataxia, constant myoclonus; mild-moderate intellectual disability, delayed speech development; MRI brain normal; IGH deficiency, subclinical hypothyroidism
Diagnosis/Initial	epilepsy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	00y17m
Phenotype/Onset	seizures
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-21 10:04:47 +02:00 (CEST)
Date last edited	2022-10-21 10:09:43 +02:00 (CEST)

Global Variome shared LOVD