Epilepsy with auditory features
Identifieur interne : 000158 ( Main/Exploration ); précédent : 000157; suivant : 000159Epilepsy with auditory features
Auteurs : Tommaso Pippucci ; Laura Licchetta ; Sara Baldassari ; Flavia Palombo ; Veronica Menghi ; Romina D'Aurizio ; Chiara Leta ; Carlotta Stipa ; Giovanni Boero ; Giuseppe D'Orsi ; Alberto Magi ; Ingrid Scheffer ; Marco Seri ; Paolo Tinuper ; Francesca BisulliSource :
- Neurology: Genetics [ 2376-7839 ] ; 2015.
Abstract
To identify novel genes implicated in epilepsy with auditory features (EAF) in phenotypically heterogeneous families with unknown molecular basis.
We identified 15 probands with EAF in whom an
WES revealed likely pathogenic variants in genes that had not been previously associated with EAF: a
EAF is a clinically and molecularly heterogeneous disease. The association of EAF with
Url:
DOI: 10.1212/NXG.0000000000000005
PubMed: 27066544
PubMed Central: 4821078
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Epilepsy with auditory features</title><author><name sortKey="Pippucci, Tommaso" sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name></author><author><name sortKey="Baldassari, Sara" sort="Baldassari, Sara" uniqKey="Baldassari S" first="Sara" last="Baldassari">Sara Baldassari</name></author><author><name sortKey="Palombo, Flavia" sort="Palombo, Flavia" uniqKey="Palombo F" first="Flavia" last="Palombo">Flavia Palombo</name></author><author><name sortKey="Menghi, Veronica" sort="Menghi, Veronica" uniqKey="Menghi V" first="Veronica" last="Menghi">Veronica Menghi</name></author><author><name sortKey="D Aurizio, Romina" sort="D Aurizio, Romina" uniqKey="D Aurizio R" first="Romina" last="D'Aurizio">Romina D'Aurizio</name></author><author><name sortKey="Leta, Chiara" sort="Leta, Chiara" uniqKey="Leta C" first="Chiara" last="Leta">Chiara Leta</name></author><author><name sortKey="Stipa, Carlotta" sort="Stipa, Carlotta" uniqKey="Stipa C" first="Carlotta" last="Stipa">Carlotta Stipa</name></author><author><name sortKey="Boero, Giovanni" sort="Boero, Giovanni" uniqKey="Boero G" first="Giovanni" last="Boero">Giovanni Boero</name></author><author><name sortKey="D Orsi, Giuseppe" sort="D Orsi, Giuseppe" uniqKey="D Orsi G" first="Giuseppe" last="D'Orsi">Giuseppe D'Orsi</name></author><author><name sortKey="Magi, Alberto" sort="Magi, Alberto" uniqKey="Magi A" first="Alberto" last="Magi">Alberto Magi</name></author><author><name sortKey="Scheffer, Ingrid" sort="Scheffer, Ingrid" uniqKey="Scheffer I" first="Ingrid" last="Scheffer">Ingrid Scheffer</name></author><author><name sortKey="Seri, Marco" sort="Seri, Marco" uniqKey="Seri M" first="Marco" last="Seri">Marco Seri</name></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27066544</idno><idno type="pmc">4821078</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821078</idno><idno type="RBID">PMC:4821078</idno><idno type="doi">10.1212/NXG.0000000000000005</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000071</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000071</idno><idno type="wicri:Area/Pmc/Curation">000071</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000071</idno><idno type="wicri:Area/Pmc/Checkpoint">000076</idno><idno type="wicri:explorRef" wicri:stream="Pmc" 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sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name></author><author><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name></author><author><name sortKey="Baldassari, Sara" sort="Baldassari, Sara" uniqKey="Baldassari S" first="Sara" last="Baldassari">Sara Baldassari</name></author><author><name sortKey="Palombo, Flavia" sort="Palombo, Flavia" uniqKey="Palombo F" first="Flavia" last="Palombo">Flavia Palombo</name></author><author><name sortKey="Menghi, Veronica" sort="Menghi, Veronica" uniqKey="Menghi V" first="Veronica" last="Menghi">Veronica Menghi</name></author><author><name sortKey="D Aurizio, Romina" sort="D Aurizio, Romina" uniqKey="D Aurizio R" first="Romina" last="D'Aurizio">Romina D'Aurizio</name></author><author><name sortKey="Leta, Chiara" sort="Leta, Chiara" uniqKey="Leta C" first="Chiara" last="Leta">Chiara Leta</name></author><author><name sortKey="Stipa, Carlotta" sort="Stipa, Carlotta" uniqKey="Stipa C" first="Carlotta" last="Stipa">Carlotta Stipa</name></author><author><name sortKey="Boero, Giovanni" sort="Boero, Giovanni" uniqKey="Boero G" first="Giovanni" last="Boero">Giovanni Boero</name></author><author><name sortKey="D Orsi, Giuseppe" sort="D Orsi, Giuseppe" uniqKey="D Orsi G" first="Giuseppe" last="D'Orsi">Giuseppe D'Orsi</name></author><author><name sortKey="Magi, Alberto" sort="Magi, Alberto" uniqKey="Magi A" first="Alberto" last="Magi">Alberto Magi</name></author><author><name sortKey="Scheffer, Ingrid" sort="Scheffer, Ingrid" uniqKey="Scheffer I" first="Ingrid" last="Scheffer">Ingrid Scheffer</name></author><author><name sortKey="Seri, Marco" sort="Seri, Marco" uniqKey="Seri M" first="Marco" last="Seri">Marco Seri</name></author><author><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name></author><author><name sortKey="Bisulli, Francesca" sort="Bisulli, Francesca" uniqKey="Bisulli F" first="Francesca" last="Bisulli">Francesca Bisulli</name></author></analytic><series><title level="j">Neurology: Genetics</title><idno type="eISSN">2376-7839</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Objective:</title><p>To identify novel genes implicated in epilepsy with auditory features (EAF) in phenotypically heterogeneous families with unknown molecular basis.</p></sec><sec><title>Methods:</title><p>We identified 15 probands with EAF in whom an <italic>LGI1</italic> 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.</p></sec><sec><title>Results:</title><p>WES revealed likely pathogenic variants in genes that had not been previously associated with EAF: a <italic>CNTNAP2</italic> intragenic deletion, 2 truncating mutations of <italic>DEPDC5</italic>, and a missense <italic>SCN1A</italic> change.</p></sec><sec><title>Conclusions:</title><p>EAF is a clinically and molecularly heterogeneous disease. The association of EAF with <italic>CNTNAP2</italic>, <italic>DEPDC5</italic>, and <italic>SCN1A</italic> mutations widens the phenotypic spectrum related to these genes. <italic>CNTNAP2</italic> encodes CASPR2, a member of the voltage-gated potassium channel complex in which LGI1 plays a role. The finding of a <italic>CNTNAP2</italic> deletion emphasizes the importance of this complex in EAF and shows biological convergence.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Ottman, R" uniqKey="Ottman R">R Ottman</name></author><author><name sortKey="Risch, N" uniqKey="Risch N">N Risch</name></author><author><name sortKey="Hauser, Wa" uniqKey="Hauser W">WA Hauser</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Berg, At" uniqKey="Berg A">AT Berg</name></author><author><name sortKey="Berkovic, Sf" uniqKey="Berkovic S">SF Berkovic</name></author><author><name sortKey="Brodie, Mj" uniqKey="Brodie M">MJ Brodie</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Morante Redolat, Jm" uniqKey="Morante Redolat J">JM Morante-Redolat</name></author><author><name sortKey="Gorostidi Pagola, A" uniqKey="Gorostidi Pagola A">A 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D'Aurizio</name><name sortKey="D Orsi, Giuseppe" sort="D Orsi, Giuseppe" uniqKey="D Orsi G" first="Giuseppe" last="D'Orsi">Giuseppe D'Orsi</name><name sortKey="Leta, Chiara" sort="Leta, Chiara" uniqKey="Leta C" first="Chiara" last="Leta">Chiara Leta</name><name sortKey="Licchetta, Laura" sort="Licchetta, Laura" uniqKey="Licchetta L" first="Laura" last="Licchetta">Laura Licchetta</name><name sortKey="Magi, Alberto" sort="Magi, Alberto" uniqKey="Magi A" first="Alberto" last="Magi">Alberto Magi</name><name sortKey="Menghi, Veronica" sort="Menghi, Veronica" uniqKey="Menghi V" first="Veronica" last="Menghi">Veronica Menghi</name><name sortKey="Palombo, Flavia" sort="Palombo, Flavia" uniqKey="Palombo F" first="Flavia" last="Palombo">Flavia Palombo</name><name sortKey="Pippucci, Tommaso" sort="Pippucci, Tommaso" uniqKey="Pippucci T" first="Tommaso" last="Pippucci">Tommaso Pippucci</name><name sortKey="Scheffer, Ingrid" sort="Scheffer, Ingrid" uniqKey="Scheffer I" first="Ingrid" last="Scheffer">Ingrid Scheffer</name><name sortKey="Seri, Marco" sort="Seri, Marco" uniqKey="Seri M" first="Marco" last="Seri">Marco Seri</name><name sortKey="Stipa, Carlotta" sort="Stipa, Carlotta" uniqKey="Stipa C" first="Carlotta" last="Stipa">Carlotta Stipa</name><name sortKey="Tinuper, Paolo" sort="Tinuper, Paolo" uniqKey="Tinuper P" first="Paolo" last="Tinuper">Paolo Tinuper</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Ticri/CIDE/explor/TelematiV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000158 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000158 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Ticri/CIDE
|area= TelematiV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= PMC:4821078
|texte= Epilepsy with auditory features
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:27066544" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a TelematiV1
| This area was generated with Dilib version V0.6.31. |  |