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Article

Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.

Epilepsia - 1 Jul 2011

Di Bonaventura Carlo, Operto Francesca F, Busolin Giorgia, Egeo Gabriella, D'Aniello Alfredo, Vitello Libero, Smaniotto Gessica, Furlan Sandra, Diani Erica, Michelucci Roberto, Giallonardo Anna Teresa, Coppola Giangennaro, Nobile Carlo

Abstract excerpt

PURPOSE: To describe the clinical and genetic findings of four families with autosomal dominant lateral temporal epilepsy. METHODS: A personal and family history was obtained from each affected and unaffected subject along with a physical and neurologic examination. Routine electroencephalography and magnetic resonance imaging (MRI) studies were performed in almost all patients. DNAs from family members were...

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Source

Identifiers

PMID: 21504429
DOI: 10.1111/j.1528-1167.2011.03071.x

Genes

LGI1

Variants

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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