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Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy Volume 23, issue 4, August 2021

TEST YOURSELF

(1) What is paroxysmal tonic upgaze?

 

(2) How many epileptic phenotypes are associated with SCN8A gene mutation?

 

(3) Are paroxysmal movement disorders reported in SCN8A-related syndromes?

 

 

 

 

 

 

 

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Answers

 

(1) Paroxysmal tonic upgaze is an involuntary, non-epileptic disorder, consisting of sustained conjugate upward deviation of the eyes, neck flexion, and downbeat saccades.

 

(2) Three (benign familial infantile seizures, severe developmental and epileptic encephalopathy, intermediate developmental and epileptic encephalopathy).

 

(3) Yes, in association with benign familial infantile seizures and the intermediate phenotype.

 

 

 

 

 

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