Associated Papers
Ion Channel Dysregulation in Neurodevelopmental Disorders: Mechanisms, Models, and Therapeutic Advances.
Shi Z et al.
Frontiers in Bioscience (landmark Edition), 2026
Aberrant calcium signaling and neuronal activity in the L271H CACNA1D (Cav1.3) iPSC model of neurodevelopmental disease.
Tisch M et al.
Molecular Psychiatry, 2026
Inactivation induced by pathogenic Cav1.3 L-type Ca2+-channel variants enhances sensitivity for dihydropyridine Ca2+ channel blockers.
Török F et al.
British Journal of Pharmacology, 2025
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Dannenberg F et al.
Neurology. Genetics, 2024
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.
Tang X et al.
European Journal of Human Genetics : Ejhg, 2024
38553610 (PubMed )
Supplement: 41431_2024_1594_MOESM10_ESM.xlsx › rank2023
Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies.
Török F et al.
Human Molecular Genetics, 2023
CACNA1D-Related Channelopathies: From Hypertension to Autism.
Ortner NJ
Handbook of Experimental Pharmacology, 2023
Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review.
Alzahrani A et al.
Frontiers in Neurology, 2023
Generation of the human induced pluripotent stem cell line (IBKMOLi002-A) from PBMCs of a patient carrying the heterozygous L271H mutation of the voltage-gated calcium channel subunit Cav1.3-encoding CACNA1D gene.
Tisch M et al.
Stem Cell Research, 2022
Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.
Santana LS et al.
Frontiers in Endocrinology, 2022
A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia.
De Mingo Alemany MC et al.
Channels (austin, Tex.), 2020
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