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Article

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Archives of neurology - 1 Feb 2007

Chabrol Elodie, Popescu Cyprian, Gourfinkel-An Isabelle, Trouillard Oriane, Depienne Christel, Senechal Kristen, Baulac Michel, LeGuern Eric, Baulac Stéphanie

Abstract excerpt

BACKGROUND: Mutations in the leucine-rich, glioma-inactivated 1 (LGI1) gene have been implicated in autosomal dominant lateral temporal epilepsy. OBJECTIVE: To describe the clinical and genetic findings in 2 families with autosomal dominant lateral temporal epilepsy and the functional consequences of 2 novel mutations in LGI1. DESIGN: Clinical, genetic, and functional investigations. SETTING: University hospital....

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Source

Identifiers

PMID: 17296837
DOI: 10.1001/archneur.64.2.217

Genes

LGI1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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