Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

doi:10.1093/hmg/11.9.1119

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Article

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

Human molecular genetics - 1 May 2002

Morante-Redolat José M, Gorostidi-Pagola Ana, Piquer-Sirerol Salomé, Sáenz Amets, Poza Juan J, Galán Juan, Gesk Stefan, Sarafidou Theologia, Mautner Victor-F, Binelli Simona, Staub Eike, Hinzmann Bernd, French Lisa, Prud'homme Jean-F, Passarelli Daniela, Scannapieco Paolo, Tassinari Carlo A, Avanzini Giuliano, Martí-Massó José F, Kluwe Lan, Deloukas Panagiotis, Moschonas Nicholas K, Michelucci Roberto, Siebert Reiner, Nobile Carlo, Pérez-Tur Jordi, López de Munain Adolfo

Abstract excerpt

Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs. The gene for this disorder has been mapped by linkage studies to chromosomal region 10q24. Here we show that mutations in the LGI1 gene segregate with EPT in two families affected by this disorder. Both mutations introduce premature stop codons and thus...

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PMID: 11978770
DOI: 10.1093/hmg/11.9.1119

Genes

LGI1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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