Phenotype #0000231848

Individual ID 00306002
Associated disease epilepsy
Phenotype details severe intellectual disability; 6m-onset LGS with atypical absences, myoclonic and focal seizures and GTCS; at time referral daily seizures despite treatment with VPA, LTG, CLZ, phenobarbital (PB) and ethosuximide (ETX); following genetic diagnosis tapered off LTG (10y-duration treatment) went from daily generalized seizures, with a duration up to 20-60 minutes to 5-10 seizures per month, none of them more than a couple of minutes in duration, many focal instead of generalized, increased activity level, attention span and initiative, currently treated with ETX, PB, VPA and CLZ
Diagnosis/Initial Lennox Gastaut syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite Dravet syndrome;EIEE6
Age/Examination 41y (41 years)
Age/Diagnosis -
Age/Onset -
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 2020-07-06 16:08:38 +02:00 (CEST)
Date last edited 2020-07-06 16:37:39 +02:00 (CEST)

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