John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion Volume 19, numéro 2, June 2017

TEST YOURSELF

(1) Are benign infantile seizures (BIS) the only manifestation resulting from mutations in PRRT2?

 

(2) Is the neurodevelopmental prognosis of BIS always benign?

 

 

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Answers

(1) No, a variety of early-onset paroxysmal disorders, either associated or not with BIS, including other paroxysmal dyskinesias, may result from PRRT2 mutations (e.g. hemiplegic migraine and episodic ataxia).


(2) Usually yes, except for patients carrying 16p11.2 rearrangements that include PRRT2, which could be associated with neurodevelopmental regression.

 

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