Article
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
Journal of child neurology - 1 Apr 2009
Livingston John H, Cross J Helen, Mclellan Ailsa, Birch Rachael, Zuberi Sameer M
Abstract excerpt
We report 2 families harboring a novel SCN1A mutation, one of whom had Panayiotopoulos syndrome and the other a phenotype consistent with generalized epilepsy with febrile seizures plus. Two siblings had recurrent episodes of autonomic status epilepticus with focal features consistent with the di...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.