Associated Papers
Exploring human brain development and disease using assembloids.
Wu SR et al.
Neuron, 2025
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.
Moghimi P et al.
Biochemical Genetics, 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
Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders.
Davakan A et al.
Frontiers in Pharmacology, 2025
Human assembloids reveal the consequences of CACNA1G gene variants in the thalamocortical pathway.
Kim JI et al.
Neuron, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
First Cases of Spinocerebellar Ataxia 42 in Two Korean Families.
Son H et al.
Journal of Movement Disorders, 2023
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N et al.
Archives of Iranian Medicine, 2022
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
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Symonds JD et al.
Brain : a Journal of Neurology, 2021
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb Y et al.
Brain : a Journal of Neurology, 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
Casas-Alba D et al.
American Journal of Medical Genetics. Part A, 2021
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
Kunii M et al.
Journal of the Neurological Sciences, 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
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Scocchia A et al.
Npj Genomic Medicine, 2019
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