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

doi:10.1186/s12883-016-0748-3

Article

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

BMC neurology - 23 Nov 2016

Renaud Mathilde, Marcel Christophe, Rudolf Gabrielle, Schaeffer Mickaël, Lagha-Boukbiza Ouhaïd, Chanson Jean-Baptiste, Chelly Jamel, Anheim Mathieu, Tranchant Christine

Abstract excerpt

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, p. R484 W and p. S685G mutations. METHODS: Between June 2011 and November 2013, all consecutive patients suspected...

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

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