KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?

Niccolò E. Mencacci; Norbert Brüggemann

doi:10.1016/j.parkreldis.2019.03.006

KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?

Niccolò E. Mencacci^*, Norbert Brüggemann

^*Corresponding author for this work

Department of Neurology

Northwestern University

14 Citations (Scopus)

Abstract

Over the past decade, the increasingly widespread use of next-generation sequencing (NGS), and in particular of whole-exome sequencing (WES), has allowed the identification of genes responsible for Mendelian diseases at an extraordinary and unprecedented pace.

Original language	English
Journal	Parkinsonism and Related Disorders
Volume	61
Pages (from-to)	1-3
Number of pages	3
ISSN	1353-8020
DOIs	https://doi.org/10.1016/j.parkreldis.2019.03.006
Publication status	Published - 01.04.2019

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities

Research Areas and Centers

Research Area: Medical Genetics

Access to Document

10.1016/j.parkreldis.2019.03.006

Cite this

@article{5b180740e0b0469cb26f36c823e067c3,

title = "KCTD17 is a confirmed new gene for dystonia, but is it responsible for SGCE-negative myoclonus-dystonia?",

abstract = "Over the past decade, the increasingly widespread use of next-generation sequencing (NGS), and in particular of whole-exome sequencing (WES), has allowed the identification of genes responsible for Mendelian diseases at an extraordinary and unprecedented pace. ",

author = "Mencacci, \{Niccol{\`o} E.\} and Norbert Br{\"u}ggemann",

year = "2019",

month = apr,

day = "1",

doi = "10.1016/j.parkreldis.2019.03.006",

language = "English",

volume = "61",

pages = "1--3",

journal = "Parkinsonism and Related Disorders",