[HTML][HTML] Genetics and pathogenesis of dystonia

M Thomsen, LM Lange, M Zech… - Annual Review of …, 2024 - annualreviews.org
Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

[HTML][HTML] Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders

S Heyes, WS Pratt, E Rees, S Dahimene, L Ferron… - Progress in …, 2015 - Elsevier
This review summarises genetic studies in which calcium channel genes have been
connected to the spectrum of neuropsychiatric syndromes, from bipolar disorder and …

Update on the genetics of dystonia

K Lohmann, C Klein - Current neurology and neuroscience reports, 2017 - Springer
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of
dystonia has rapidly grown in recent years, which led to the discovery of a number of novel …

A mechanistic review on GNAO1-associated movement disorder

H Feng, S Khalil, RR Neubig, C Sidiropoulos - Neurobiology of disease, 2018 - Elsevier
Mutations in the GNAO1 gene cause a complex constellation of neurological disorders
including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gα o …

[HTML][HTML] Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies

J Striessnig - Frontiers in synaptic neuroscience, 2021 - frontiersin.org
This review summarizes our current knowledge of human disease-relevant genetic variants
within the family of voltage gated Ca2+ channels. Ca2+ channelopathies cover a wide …

Genetic dystonias: update on classification and new genetic discoveries

IJ Keller Sarmiento, NE Mencacci - Current neurology and neuroscience …, 2021 - Springer
Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Genome-wide association analysis of Parkinson's disease and schizophrenia reveals shared genetic architecture and identifies novel risk loci

OB Smeland, A Shadrin, S Bahrami, I Broce, M Tesli… - Biological …, 2021 - Elsevier
Background Parkinson's disease (PD) and schizophrenia (SCZ) are heritable brain
disorders that involve dysregulation of the dopaminergic system. Epidemiological studies …

[HTML][HTML] Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia

KM Gorman, E Meyer, D Grozeva, E Spinelli… - The American Journal of …, 2019 - cell.com
The occurrence of non-epileptic hyperkinetic movements in the context of developmental
epileptic encephalopathies is an increasingly recognized phenomenon. Identification of …

Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan—neurodevelopment, channel, and signaling dysfunction

E Menozzi, B Balint, A Latorre, EM Valente… - Movement …, 2019 - Wiley Online Library
Myoclonus‐dystonia is a clinical syndrome characterized by a typical childhood onset of
myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric …

Novel dystonia genes: clues on disease mechanisms and the complexities of high‐throughput sequencing

A Domingo, R Erro, K Lohmann - Movement Disorders, 2016 - Wiley Online Library
Dystonia is a genetically heterogenous disease and a prototype disorder where next‐
generation sequencing has facilitated the identification of new pathogenic genes. This …