Phenotype #0000223749

Individual ID	00296274
Associated disease	epilepsy
Phenotype details	eye pursuit-5m, walking without support-24m, meaningful words-30m; seizure and developmental delay; walk-2y; severe intellectual disability; speech few words; microcephaly (2nd percentile); 4y-atonic seizure; seizure therapy intractable, but improved by clobazam and sulthiame (responsive); regression; ataxia; intention tremor; myoclonus; no increased deep tendon reflex; no pathogenic reflex; no dysmorphic features; walking with support; MRI brain normal; EEG focal bifrontal epileptiform discharges accentuated during sleep (4 years), frequent frontocentral discharges during awake state (5 years), frequent intermittent slow spikes in right posterior region (11 years)
Diagnosis/Initial	epilepsy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	4y
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