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The clinical manifestations of CACNA1C-related disorders include a spectrum of nonsyndromic and syndromic phenotypes, which generally correlate with the impact of the pathogenic variant on calcium current. Phenotypes can include:
Timothy syndrome
CACNA1C-related neurodevelopmental syndrome ( Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures)
Nonsyndromic long QT syndrome (long QT syndrome 8) – LQT8 is used in medical literature to refer to both Timothy syndrome and nonsyndromic CACNA1C-related long QT syndrome
Nonsyndromic short QT syndrome (SQT6″ refers to CACNA1C-related short QT syndrome)
Brugada syndrome with short QT (“BRGDA3” refers to CACNA1C-related Brugada syndrome)
[https://www.ncbi.nlm.nih.gov/books/NBK1403/]
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