Novel GABRG2 mutations cause familial febrile seizures

OBJECTIVE: To identify the genetic cause in a large family with febrile seizures (FS) and temporal lobe epilepsy (TLE) and subsequently search for additional mutations in a cohort of 107 families with FS, with or without epilepsy. METHODS: The cohort consisted of 1 large family with FS and TLE, 64 s...

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Vydáno v:Neurol Genet
Hlavní autoři: Boillot, Morgane, Morin-Brureau, Mélanie, Picard, Fabienne, Weckhuysen, Sarah, Lambrecq, Virginie, Minetti, Carlo, Striano, Pasquale, Zara, Federico, Iacomino, Michele, Ishida, Saeko, An-Gourfinkel, Isabelle, Daniau, Mailys, Hardies, Katia, Baulac, Michel, Dulac, Olivier, Leguern, Eric, Nabbout, Rima, Baulac, Stéphanie
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4811385/
https://ncbi.nlm.nih.gov/pubmed/27066572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000035
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