Associated Papers
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.
El Ghaleb Y et al.
Plos Genetics, 2025
CaV3.3 Channelopathies.
El Ghaleb Y et al.
Handbook of Experimental Pharmacology, 2023
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort.
Baez-Nieto D et al.
Brain : a Journal of Neurology, 2022
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb Y et al.
Brain : a Journal of Neurology, 2021
Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research.
Mealer RG et al.
Molecular Psychiatry, 2020
Neuronal Cav3 channelopathies: recent progress and perspectives.
Lory P et al.
Pflugers Archiv : European Journal of Physiology, 2020
Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits.
Ghoshal A et al.
Translational Psychiatry, 2020
Genetic T-type calcium channelopathies.
Weiss N et al.
Journal of Medical Genetics, 2020
A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 channel activity.
Andrade A et al.
Scientific Reports, 2016
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