Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\29325613
.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Handb+Clin+Neurol
2018 ; 147
(ä): 229-239
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Essential tremor
#MMPMID29325613
Clark LN
; Louis ED
Handb Clin Neurol
2018[]; 147
(ä): 229-239
PMID29325613
show ga
Essential tremor (ET) is one of the most common neurologic disorders, and genetic
factors are thought to contribute significantly to disease etiology. There has
been a relative lack of progress in understanding the genetic etiology of ET.
This could reflect a number of factors, including the presence of substantial
phenotypic and genotypic heterogeneity. Thus, a meticulous approach to
phenotyping is important for genetic research. A lack of standardized phenotyping
across studies and patient centers likely has contributed to the relative lack of
success of genomewide association studies in ET. To dissect the genetic
architecture of ET, whole-genome sequencing will likely be of value. This will
allow specific hypotheses about the mode of inheritance and genetic architecture
to be tested. A number of approaches still remain unexplored in ET genetics,
including the contribution of copy number variants, uncommon moderate-effect
alleles, rare variant large-effect alleles (including Mendelian and
complex/polygenic modes of inheritance), de novo and gonadal mosaicism,
epigenetic changes, and noncoding variation.