Journal article

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study

Samuel F Berkovic, Louise Harkin, Jacinta M McMahon, James T Pelekanos, Sameer M Zuberi, Elaine C Wirrell, Deepak S Gill, Xenia Iona, John C Mulley, Ingrid E Scheffer

LANCET NEUROLOGY | ELSEVIER SCIENCE INC | Published : 2006

Abstract

BACKGROUND: Vaccination, particularly for pertussis, has been implicated as a direct cause of an encephalopathy with refractory seizures and intellectual impairment. We postulated that cases of so-called vaccine encephalopathy could have mutations in the neuronal sodium channel alpha1 subunit gene (SCN1A) because of a clinical resemblance to severe myoclonic epilepsy of infancy (SMEI) for which such mutations have been identified. METHODS: We retrospectively studied 14 patients with alleged vaccine encephalopathy in whom the first seizure occurred within 72 h of vaccination. We reviewed the relation to vaccination from source records and assessed the specific epilepsy phenotype. Mutations in..

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