Cargando…
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...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811385/ https://www.ncbi.nlm.nih.gov/pubmed/27066572 http://dx.doi.org/10.1212/NXG.0000000000000035 |
Ejemplares similares
-
Genetics of inherited human epilepsies
por: Gourfinkel-An, Isabelle, et al.
Publicado: (2001) -
LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development
por: Boillot, Morgane, et al.
Publicado: (2016) -
GABRG2 Variants Associated with Febrile Seizures
por: Hernandez, Ciria C., et al.
Publicado: (2023) -
Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
por: Couarch, Philippe, et al.
Publicado: (2011) -
Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice
por: Chabrol, Elodie, et al.
Publicado: (2010)