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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-04-04 16:39:45 +02:00 (CEST)
Date last edited N/A

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