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Article

Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.

Epilepsia - 1 Oct 2014

Fanciulli Manuela, Pasini Elena, Malacrida Sandro, Striano Pasquale, Striano Salvatore, Michelucci Roberto, Ottman Ruth, Nobile Carlo

Abstract excerpt

OBJECTIVE: Autosomal dominant lateral temporal epilepsy (ADLTE) is a focal epileptic syndrome characterized by auditory or aphasic auras. Mutations in the LGI1 gene account for <50% of ADLTE families. To identify copy number variants (CNVs) related to ADLTE, we examined a collection of ADLTE families without LGI1 mutations. METHODS: Twenty-one families were included based on a history of focal seizures with...

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Topics

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Share to DNA Copy Number Variations
Share to Epilepsy, Temporal Lobe

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to LGI1 gene

Share to Genetic Predisposition to Disease

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Share to Polymorphism, Single Nucleotide

Share to Real-Time Polymerase Chain Reaction

Source

Identifiers

PMID: 25243798
DOI: 10.1111/epi.12767

Genes

LGI1
NRXN1
PCDHA8
RBFOX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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