Associated Papers
The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.
Pittman M et al.
Genome Research, 2026
41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.
Matsumoto A et al.
Journal of Human Genetics, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
CACNA1H variants are not a cause of monogenic epilepsy.
Calhoun JD et al.
Human Mutation, 2020
Paracetamol and Pain Modulation by TRPV1, UGT2B15, SULT1A1 Genotypes: A Randomized Clinical Trial in Healthy Volunteers.
Pickering G et al.
Pain Medicine (malden, Mass.), 2020
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
Meyer K et al.
Cell, 2018
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
Heron SE et al.
Annals of Neurology, 2007
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Biophysics and structure-function relationship of T-type Ca2+ channels.
Talavera K et al.
Cell Calcium, 2006
Genetic variation of CACNA1H in idiopathic generalized epilepsy.
Heron SE et al.
Annals of Neurology, 2004
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