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
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
CaV3.3 Channelopathies.
El Ghaleb Y et al.
Handbook of Experimental Pharmacology, 2023
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
33985586 (PubMed )
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