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Article

Epilepsy with auditory features: Contribution of known genes in 112 patients.

Seizure - 1 Feb 2021

Bisulli F, Rinaldi C, Pippucci T, Minardi R, Baldassari S, Zenesini C, Mostacci B, Fanella M, Avoni P, Menghi V, Caporali L, Muccioli L, Tinuper P, Licchetta L

Abstract excerpt

Epilepsy with Auditory Features (EAF) is a focal epilepsy syndrome mainly of unknown aetiology. LGI1 and RELN have been identified as the main cause of Autosomal Dominant EAF and anecdotally reported in non-familial cases. Pathogenic variants in SCN1A and DEPDC5 have also been described in a few EAF probands belonging to families with heterogeneous phenotypes and incomplete penetrance. We aimed to estimate the...

Topics

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Epilepsy, Frontal Lobe
Epileptic Syndromes
LGI1 gene
RELN gene
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33453592
DOI: 10.1016/j.seizure.2020.12.015

Genes

DEPDC5
LGI1
RELN
SCN1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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