Phenotype #0000223747

Individual ID	00296272
Associated disease	epilepsy
Phenotype details	walking without support-28m; seizure; walk-2y4m; severe intellectual disability (IQ=25 12y); speech few words; microcephaly (−2.0 SD); 11m-generalized tonic-clonic seizures, 5y-loss of consciousness with abnormal eye movement, 10y-complex partial seizure, 10y-atonic seizure,; seizure therapy intractable; regression motor skill; ataxia; intention tremor; rigidity; myoclonus; spasticity; increased deep tendon reflex upper and lower limbs; no pathogenic reflex; no dysmorphic features; wheelchair-bound; MRI brain mild cerebellar atrophy; EEG diffuse slow wave with 2–3 Hz and spike-and-wave in bilateral frontal region (3 years and 4 years), diffuse theta waves with 4–5 Hz and spike-and-wave burst with 2–3 Hz (9 years), multifocal spikes in left parietal region and bilateral frontal regions (12 years), multispikes in left occipital region (13 years), slow waves at baselines (23 years); giant somatosensory evoked potential; systemic lupus erythematosus
Diagnosis/Initial	epilepsy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	28y (28 years)
Age/Diagnosis	-
Age/Onset	11m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-04 16:39:45 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD