Dataset Information

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

ABSTRACT:

Objective

To identify novel genes implicated in epilepsy with auditory features (EAF) in phenotypically heterogeneous families with unknown molecular basis.

Methods

We identified 15 probands with EAF in whom an LGI1 mutation had been excluded. We performed electroclinical phenotyping on all probands and available affected relatives. We used whole-exome sequencing (WES) in 20 individuals with EAF (including all the probands and 5 relatives) to identify single nucleotide variants, small insertions/deletions, and copy number variants.

Results

WES revealed likely pathogenic variants in genes that had not been previously associated with EAF: a CNTNAP2 intragenic deletion, 2 truncating mutations of DEPDC5, and a missense SCN1A change.

Conclusions

EAF is a clinically and molecularly heterogeneous disease. The association of EAF with CNTNAP2, DEPDC5, and SCN1A mutations widens the phenotypic spectrum related to these genes. CNTNAP2 encodes CASPR2, a member of the voltage-gated potassium channel complex in which LGI1 plays a role. The finding of a CNTNAP2 deletion emphasizes the importance of this complex in EAF and shows biological convergence.

SUBMITTER: Pippucci T

PROVIDER: S-EPMC4821078 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature

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Publications

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

Pippucci Tommaso T Licchetta Laura L Baldassari Sara S Palombo Flavia F Menghi Veronica V D'Aurizio Romina R Leta Chiara C Stipa Carlotta C Boero Giovanni G d'Orsi Giuseppe G Magi Alberto A Scheffer Ingrid I Seri Marco M Tinuper Paolo P Bisulli Francesca F

Neurology. Genetics 20150514 1

<h4>Objective</h4>To identify novel genes implicated in epilepsy with auditory features (EAF) in phenotypically heterogeneous families with unknown molecular basis.<h4>Methods</h4>We identified 15 probands with EAF in whom an LGI1 mutation had been excluded. We performed electroclinical phenotyping on all probands and available affected relatives. We used whole-exome sequencing (WES) in 20 individuals with EAF (including all the probands and 5 relatives) to identify single nucleotide variants, s ...[more]

PMID: 27066544

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Dataset Information

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

Objective

Methods

Results

Conclusions

Publications

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

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