Associated Papers
Living on the Rocks: Genomic Analysis of Limestone Langurs Provides Novel Insights into the Adaptive Evolution in Extreme Karst Environments.
Liu Z et al.
Genomics, Proteomics & Bioinformatics, 2025
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
Rafehi H et al.
Genome Research, 2025
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Qebibo L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.
De Riggi M et al.
Cerebellum (london, England), 2024
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Ahn JH et al.
Npj Genomic Medicine, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
A Review of the CACNA Gene Family: Its Role in Neurological Disorders.
Szymanowicz O et al.
Diseases (basel, Switzerland), 2024
First Cases of Spinocerebellar Ataxia 42 in Two Korean Families.
Son H et al.
Journal of Movement Disorders, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384.
Amadori E et al.
European Journal of Medical Genetics, 2022
Human Induced Pluripotent Stem Cell-Based Modelling of Spinocerebellar Ataxias.
Hommersom MP et al.
Stem Cell Reviews and Reports, 2022
Vulnerability of Human Cerebellar Neurons to Degeneration in Ataxia-Causing Channelopathies.
Bushart DD et al.
Frontiers in Systems Neuroscience, 2022
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Symonds JD et al.
Brain : a Journal of Neurology, 2021
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Striessnig J
Frontiers in Synaptic Neuroscience, 2021
Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia.
Hara N et al.
Molecular Brain, 2020
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Investigating developmental and disease mechanisms of the cerebellum with pluripotent stem cells.
Tamada A et al.
Molecular and Cellular Neurosciences, 2020
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.
Berecki G et al.
International Journal of Molecular Sciences, 2020
Neuronal Cav3 channelopathies: recent progress and perspectives.
Lory P et al.
Pflugers Archiv : European Journal of Physiology, 2020
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.
Barresi S et al.
Pediatric Neurology, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).
Prestori F et al.
International Journal of Molecular Sciences, 2019
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.
Hashiguchi S et al.
Neurobiology of Disease, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K et al.
Journal of Medical Genetics, 2019
Ion channel dysfunction in cerebellar ataxia.
Bushart DD et al.
Neuroscience Letters, 2019
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review.
Li X et al.
Medicine, 2018
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
Chemin J et al.
Brain : a Journal of Neurology, 2018
Expanding the global prevalence of spinocerebellar ataxia type 42.
Ngo K et al.
Neurology. Genetics, 2018
Contribution of S4 segments and S4-S5 linkers to the low-voltage activation properties of T-type CaV3.3 channels.
Sanchez-Sandoval AL et al.
Plos One, 2018
SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.
Kimura M et al.
Journal of Human Genetics, 2017
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia.
Morino H et al.
Molecular Brain, 2015
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Coutelier M et al.
American Journal of Human Genetics, 2015
Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant.
Gazulla J et al.
Case Reports in Neurology, 0