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Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy Volume 18, numéro 3, September 2016

TEST YOURSELF

(1) What is the known role of the TBC1D24 protein?

 

(2) What are established epilepsy and seizure phenotypes observed in patients with TBC1D24-related epilepsy?

 

(3) Electrographically, what phenomenon makes characterizing and localizing ictal onset challenging in patients with TBC1D24-related epilepsy?

 

 

 

 

 

 

 

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Answers

(1) The TBC1D24 protein functions to coordinate Rab proteins and other GTPases for normal transport of intracellular vesicles in the central nervous system.


(2) Epilepsy phenotypes include familial infantile myoclonic epilepsy and malignant migrating partial seizure in infancy. This genetic variation is also associated with DOORS syndrome. There are a variety of seizure types seen with TBC1D24 variations, including generalized tonic-clonic, myoclonic, and prolonged focal clonic seizures.


(3) In patients with TBC1D24-related epilepsy, the onset of ictal events is complicated by the phenomenon of electroclinical dissociation. In such situations, there may not be a very clear initial correlation between specific epileptic activity and associated convulsive behaviour until well after that epileptic activity is established.

 

 

 

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