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Article

Refractory epilepsy in PSEN 1 mutation (I83T).

Neurocase - 1 Jun 2020

Fray Saloua, Rassas Afef, Messaoud Taieb, Belal Samir

Abstract excerpt

Mutations in the presenilin-1 gene (PSEN1) on chromosome 14 are the most common cause of autosomal dominant Alzheimer's disease (ADAD), which has a broad clinical phenotype, encompassing not only dementia but a variety of other neurological features. We report the case of a 32 years old man with a family history of early onset AD associated with a PSEN1 mutation in the exon 4 (I83T). The proband's, carrying the...

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Identifiers

PMID: 32241222
DOI: 10.1080/13554794.2020.1747632

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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