[HTML][HTML] Genetics and pathogenesis of dystonia
Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …
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 …
connected to the spectrum of neuropsychiatric syndromes, from bipolar disorder and …
Update on the genetics of dystonia
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 …
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
Mutations in the GNAO1 gene cause a complex constellation of neurological disorders
including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gα o …
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 …
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 …
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
Background Parkinson's disease (PD) and schizophrenia (SCZ) are heritable brain
disorders that involve dysregulation of the dopaminergic system. Epidemiological studies …
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 …
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 …
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
Dystonia is a genetically heterogenous disease and a prototype disorder where next‐
generation sequencing has facilitated the identification of new pathogenic genes. This …
generation sequencing has facilitated the identification of new pathogenic genes. This …