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Article

Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?

Epilepsy & behavior : E&B - 1 May 2011

Larner A J

Abstract excerpt

Mutations in the presenilin-1 gene (PSEN1) on chromosome 14 are the most common cause of autosomal dominant Alzheimer's disease (AD), with around 180 mutations described to date. PSEN1 AD has a broad clinical phenotype, encompassing not only dementia but a variety of other neurological features which may include epileptic seizures. Around 20% of recorded PSEN1 mutations have been reported to be associated with...

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Identifiers

PMID: 21501974
DOI: 10.1016/j.yebeh.2011.03.022

Genes

PSEN1

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