Epilepsy with auditory features: A heterogeneous clinico-molecular disease

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 proban...

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Detaylı Bibliyografya
Yayımlandı:Neurol Genet
Asıl Yazarlar: Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Palombo, Flavia, Menghi, Veronica, D'Aurizio, Romina, Leta, Chiara, Stipa, Carlotta, Boero, Giovanni, d'Orsi, Giuseppe, Magi, Alberto, Scheffer, Ingrid, Seri, Marco, Tinuper, Paolo, Bisulli, Francesca
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4821078/
https://ncbi.nlm.nih.gov/pubmed/27066544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000005
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