Phenotype #0000318792

Individual ID	00427818
Associated disease	EE
Phenotype details	gestational diabetes (diet-treated); born 37w; severe failure to thrive; complex partial seizures, giggling with decreased awareness, eye deviation, complex partial seizures, now partly controlled (brief/infrequent, every few weeks, on valproate & zonisamide); EEG diffuse slowing, multifocal spikes bifrontal/L occipital, clinical seiures originating from L frontal region; acquired microcephaly (<2nd percenile); motor regression, progressing to spastic quadriparesis; choreoathetosis, dystonic posturing; severe intellectual disability, nonverbal; short stature
Diagnosis/Initial	epileptic encephalopathy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	08y06m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-13 13:34:17 +01:00 (CET)
Date last edited	2022-12-13 14:24:46 +01:00 (CET)

Global Variome shared LOVD