A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

BACKGROUND: Essential tremor (ET) is characterized by a frequent family history. No monogenic form of ET has been identified. We aimed at exploring ET patients to identify distinct subgroups and facilitate the identification of ET genes. We tested for the presence of HTRA2 p.G399S, and ANO3 p. W490C...

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Veröffentlicht in:BMC Neurol
Hauptverfasser: Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5120508/
https://ncbi.nlm.nih.gov/pubmed/27881096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-016-0748-3
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